Articles

  • Article |

    Deep sequencing and lineage tracing analysis of esophageal epithelium of mutagen-treated aging mice leads to a model in which the proliferative advantage of positively selected mutations depends on the competitive fitness of neighboring cells.

    • Bartomeu Colom
    • , Maria P. Alcolea
    • , Gabriel Piedrafita
    • , Michael W. J. Hall
    • , Agnieszka Wabik
    • , Stefan C. Dentro
    • , Joanna C. Fowler
    • , Albert Herms
    • , Charlotte King
    • , Swee Hoe Ong
    • , Roshan K. Sood
    • , Moritz Gerstung
    • , Inigo Martincorena
    • , Benjamin A. Hall
    •  & Philip H. Jones
  • Article |

    A CRISPR screen for MLL2-dependent transcription identifies a compensatory repressive mechanism involving PRC2 and DNA methylation. PRC2 inactivation or DNA demethylation activates gene expression in the absence of H3K4me3.

    • Delphine Douillet
    • , Christie C. Sze
    • , Caila Ryan
    • , Andrea Piunti
    • , Avani P. Shah
    • , Michal Ugarenko
    • , Stacy A. Marshall
    • , Emily J. Rendleman
    • , Didi Zha
    • , Kathryn A. Helmin
    • , Zibo Zhao
    • , Kaixiang Cao
    • , Marc A. Morgan
    • , Benjamin D. Singer
    • , Elizabeth T. Bartom
    • , Edwin R. Smith
    •  & Ali Shilatifard
  • Article |

    Biallelic mutations in the sorbitol dehydrogenase gene SORD are identified as a common cause of hereditary neuropathy. Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors.

    • Andrea Cortese
    • , Yi Zhu
    • , Adriana P. Rebelo
    • , Sara Negri
    • , Steve Courel
    • , Lisa Abreu
    • , Chelsea J. Bacon
    • , Yunhong Bai
    • , Dana M. Bis-Brewer
    • , Enrico Bugiardini
    • , Elena Buglo
    • , Matt C. Danzi
    • , Shawna M. E. Feely
    • , Alkyoni Athanasiou-Fragkouli
    • , Nourelhoda A. Haridy
    • , Aixa Rodriguez
    • , Alexa Bacha
    • , Ashley Kosikowski
    • , Beth Wood
    • , Brett McCray
    • , Brianna Blume
    • , Carly Siskind
    • , Charlotte Sumner
    • , Daniela Calabrese
    • , David Walk
    • , Dragan Vujovic
    • , Eun Park
    • , Francesco Muntoni
    • , Gabrielle Donlevy
    • , Gyula Acsadi
    • , John Day
    • , Joshua Burns
    • , Jun Li
    • , Karen Krajewski
    • , Kate Eichinger
    • , Kayla Cornett
    • , Krista Mullen
    • , Perez Quiros Laura
    • , Laurie Gutmann
    • , Maria Barrett
    • , Mario Saporta
    • , Mariola Skorupinska
    • , Natalie Grant
    • , Paula Bray
    • , Reza Seyedsadjadi
    • , Riccardo Zuccarino
    • , Richard Finkel
    • , Richard Lewis
    • , Sabrina Yum
    • , Sarah Hilbert
    • , Simone Thomas
    • , Steffen Behrens-Spraggins
    • , Tara Jones
    • , Thomas Lloyd
    • , Tiffany Grider
    • , Tim Estilow
    • , Vera Fridman
    • , Rosario Isasi
    • , Alaa Khan
    • , Matilde Laurà
    • , Stefania Magri
    • , Menelaos Pipis
    • , Chiara Pisciotta
    • , Eric Powell
    • , Alexander M. Rossor
    • , Paola Saveri
    • , Janet E. Sowden
    • , Stefano Tozza
    • , Jana Vandrovcova
    • , Julia Dallman
    • , Elena Grignani
    • , Enrico Marchioni
    • , Steven S. Scherer
    • , Beisha Tang
    • , Zhiqiang Lin
    • , Abdullah Al-Ajmi
    • , Rebecca Schüle
    • , Matthis Synofzik
    • , Thierry Maisonobe
    • , Tanya Stojkovic
    • , Michaela Auer-Grumbach
    • , Mohamed A. Abdelhamed
    • , Sherifa A. Hamed
    • , Ruxu Zhang
    • , Fiore Manganelli
    • , Lucio Santoro
    • , Franco Taroni
    • , Davide Pareyson
    • , Henry Houlden
    • , David N. Herrmann
    • , Mary M. Reilly
    • , Michael E. Shy
    • , R. Grace Zhai
    •  & Stephan Zuchner
  • Article |

    Integration of GWAS and single-cell transcriptomic data from the entire nervous system systematically identifies cell types underlying brain complex traits and provides insights into the etiology of Parkinson’s disease.

    • Julien Bryois
    • , Nathan G. Skene
    • , Thomas Folkmann Hansen
    • , Lisette J. A. Kogelman
    • , Hunna J. Watson
    • , Zijing Liu
    • , Roger Adan
    • , Lars Alfredsson
    • , Tetsuya Ando
    • , Ole Andreassen
    • , Jessica Baker
    • , Andrew Bergen
    • , Wade Berrettini
    • , Andreas Birgegård
    • , Joseph Boden
    • , Ilka Boehm
    • , Claudette Boni
    • , Vesna Boraska Perica
    • , Harry Brandt
    • , Gerome Breen
    • , Julien Bryois
    • , Katharina Buehren
    • , Cynthia Bulik
    • , Roland Burghardt
    • , Matteo Cassina
    • , Sven Cichon
    • , Maurizio Clementi
    • , Jonathan Coleman
    • , Roger Cone
    • , Philippe Courtet
    • , Steven Crawford
    • , Scott Crow
    • , James Crowley
    • , Unna Danner
    • , Oliver Davis
    • , Martina de Zwaan
    • , George Dedoussis
    • , Daniela Degortes
    • , Janiece DeSocio
    • , Danielle Dick
    • , Dimitris Dikeos
    • , Christian Dina
    • , Monika Dmitrzak-Weglarz
    • , Elisa Docampo Martinez
    • , Laramie Duncan
    • , Karin Egberts
    • , Stefan Ehrlich
    • , Geòrgia Escaramís
    • , Tõnu Esko
    • , Xavier Estivill
    • , Anne Farmer
    • , Angela Favaro
    • , Fernando Fernández-Aranda
    • , Manfred Fichter
    • , Krista Fischer
    • , Manuel Föcker
    • , Lenka Foretova
    • , Andreas Forstner
    • , Monica Forzan
    • , Christopher Franklin
    • , Steven Gallinger
    • , Héléna Gaspar
    • , Ina Giegling
    • , Johanna Giuranna
    • , Paola Giusti-Rodríquez
    • , Fragiskos Gonidakis
    • , Scott Gordon
    • , Philip Gorwood
    • , Monica Gratacos Mayora
    • , Jakob Grove
    • , Sébastien Guillaume
    • , Yiran Guo
    • , Hakon Hakonarson
    • , Katherine Halmi
    • , Ken Hanscombe
    • , Konstantinos Hatzikotoulas
    • , Joanna Hauser
    • , Johannes Hebebrand
    • , Sietske Helder
    • , Anjali Henders
    • , Stefan Herms
    • , Beate Herpertz-Dahlmann
    • , Wolfgang Herzog
    • , Anke Hinney
    • , L. John Horwood
    • , Christopher Hübel
    • , Laura Huckins
    • , James Hudson
    • , Hartmut Imgart
    • , Hidetoshi Inoko
    • , Vladimir Janout
    • , Susana Jiménez-Murcia
    • , Craig Johnson
    • , Jennifer Jordan
    • , Antonio Julià
    • , Anders Juréus
    • , Gursharan Kalsi
    • , Deborah Kaminská
    • , Allan Kaplan
    • , Jaakko Kaprio
    • , Leila Karhunen
    • , Andreas Karwautz
    • , Martien Kas
    • , Walter Kaye
    • , James Kennedy
    • , Martin Kennedy
    • , Anna Keski-Rahkonen
    • , Kirsty Kiezebrink
    • , Youl-Ri Kim
    • , Katherine Kirk
    • , Lars Klareskog
    • , Kelly Klump
    • , Gun Peggy Knudsen
    • , Maria La Via
    • , Mikael Landén
    • , Janne Larsen
    • , Stephanie Le Hellard
    • , Virpi Leppä
    • , Robert Levitan
    • , Dong Li
    • , Paul Lichtenstein
    • , Lisa Lilenfeld
    • , Bochao Danae Lin
    • , Jolanta Lissowska
    • , Jurjen Luykx
    • , Pierre Magistretti
    • , Mario Maj
    • , Katrin Mannik
    • , Sara Marsal
    • , Christian Marshall
    • , Nicholas Martin
    • , Manuel Mattheisen
    • , Morten Mattingsdal
    • , Sara McDevitt
    • , Peter McGuffin
    • , Sarah Medland
    • , Andres Metspalu
    • , Ingrid Meulenbelt
    • , Nadia Micali
    • , James Mitchell
    • , Karen Mitchell
    • , Palmiero Monteleone
    • , Alessio Maria Monteleone
    • , Grant Montgomery
    • , Preben Bo Mortensen
    • , Melissa Munn-Chernoff
    • , Benedetta Nacmias
    • , Marie Navratilova
    • , Claes Norring
    • , Ioanna Ntalla
    • , Catherine Olsen
    • , Roel Ophoff
    • , Julie O’Toole
    • , Leonid Padyukov
    • , Aarno Palotie
    • , Jacques Pantel
    • , Hana Papezova
    • , Richard Parker
    • , John Pearson
    • , Nancy Pedersen
    • , Liselotte Petersen
    • , Dalila Pinto
    • , Kirstin Purves
    • , Raquel Rabionet
    • , Anu Raevuori
    • , Nicolas Ramoz
    • , Ted Reichborn-Kjennerud
    • , Valdo Ricca
    • , Samuli Ripatti
    • , Stephan Ripke
    • , Franziska Ritschel
    • , Marion Roberts
    • , Alessandro Rotondo
    • , Dan Rujescu
    • , Filip Rybakowski
    • , Paolo Santonastaso
    • , André Scherag
    • , Stephen Scherer
    • , Ulrike Schmidt
    • , Nicholas Schork
    • , Alexandra Schosser
    • , Jochen Seitz
    • , Lenka Slachtova
    • , P. Eline Slagboom
    • , Margarita Slof-Op ‘t Landt
    • , Agnieszka Slopien
    • , Sandro Sorbi
    • , Michael Strober
    • , Garret Stuber
    • , Patrick Sullivan
    • , Beata Świątkowska
    • , Jin Szatkiewicz
    • , Ioanna Tachmazidou
    • , Elena Tenconi
    • , Laura Thornton
    • , Alfonso Tortorella
    • , Federica Tozzi
    • , Janet Treasure
    • , Artemis Tsitsika
    • , Marta Tyszkiewicz-Nwafor
    • , Konstantinos Tziouvas
    • , Annemarie van Elburg
    • , Eric van Furth
    • , Tracey Wade
    • , Gudrun Wagner
    • , Esther Walton
    • , Hunna Watson
    • , Thomas Werge
    • , David Whiteman
    • , Elisabeth Widen
    • , D. Blake Woodside
    • , Shuyang Yao
    • , Zeynep Yilmaz
    • , Eleftheria Zeggini
    • , Stephanie Zerwas
    • , Stephan Zipfel
    • , Verneri Anttila
    • , Ville Artto
    • , Andrea Carmine Belin
    • , Irene de Boer
    • , Dorret I. Boomsma
    • , Sigrid Børte
    • , Daniel I. Chasman
    • , Lynn Cherkas
    • , Anne Francke Christensen
    • , Bru Cormand
    • , Ester Cuenca-Leon
    • , George Davey-Smith
    • , Martin Dichgans
    • , Cornelia van Duijn
    • , Tonu Esko
    • , Ann Louise Esserlind
    • , Michel Ferrari
    • , Rune R. Frants
    • , Tobias Freilinger
    • , Nick Furlotte
    • , Padhraig Gormley
    • , Lyn Griffiths
    • , Eija Hamalainen
    • , Thomas Folkmann Hansen
    • , Marjo Hiekkala
    • , M. Arfan Ikram
    • , Andres Ingason
    • , Marjo-Riitta Järvelin
    • , Risto Kajanne
    • , Mikko Kallela
    • , Jaakko Kaprio
    • , Mari Kaunisto
    • , Lisette J. A. Kogelman
    • , Christian Kubisch
    • , Mitja Kurki
    • , Tobias Kurth
    • , Lenore Launer
    • , Terho Lehtimaki
    • , Davor Lessel
    • , Lannie Ligthart
    • , Nadia Litterman
    • , Arn van den Maagdenberg
    • , Alfons Macaya
    • , Rainer Malik
    • , Massimo Mangino
    • , George McMahon
    • , Bertram Muller-Myhsok
    • , Benjamin M. Neale
    • , Carrie Northover
    • , Dale R. Nyholt
    • , Jes Olesen
    • , Aarno Palotie
    • , Priit Palta
    • , Linda Pedersen
    • , Nancy Pedersen
    • , Danielle Posthuma
    • , Patricia Pozo-Rosich
    • , Alice Pressman
    • , Olli Raitakari
    • , Markus Schürks
    • , Celia Sintas
    • , Kari Stefansson
    • , Hreinn Stefansson
    • , Stacy Steinberg
    • , David Strachan
    • , Gisela Terwindt
    • , Marta Vila-Pueyo
    • , Maija Wessman
    • , Bendik S. Winsvold
    • , Huiying Zhao
    • , John Anker Zwart
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert Bell
    • , Katarzyna Bryc
    • , Sarah Elson
    • , Pierre Fontanillas
    • , Nicholas Furlotte
    • , Karl Heilbron
    • , David Hinds
    • , Karen Huber
    • , Aaron Kleinman
    • , Nadia Litterman
    • , Jennifer McCreight
    • , Matthew McIntyre
    • , Joanna Mountain
    • , Elizabeth Noblin
    • , Carrie Northover
    • , Steven Pitts
    • , J. Sathirapongsasuti
    • , Olga Sazonova
    • , Janie Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Tung
    • , Vladimir Vacic
    • , Catherine Wilson
    • , Leo Brueggeman
    • , Gerome Breen
    • , Cynthia M. Bulik
    • , Ernest Arenas
    • , Jens Hjerling-Leffler
    •  & Patrick F. Sullivan
  • Article |

    Meta-analysis of 36,760 cases and 375,188 controls identifies 54 loci associated with susceptibility to cutaneous melanoma. Further analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma.

    • Maria Teresa Landi
    • , D. Timothy Bishop
    • , Stuart MacGregor
    • , Mitchell J. Machiela
    • , Alexander J. Stratigos
    • , Paola Ghiorzo
    • , Myriam Brossard
    • , Donato Calista
    • , Jiyeon Choi
    • , Maria Concetta Fargnoli
    • , Tongwu Zhang
    • , Monica Rodolfo
    • , Adam J. Trower
    • , Chiara Menin
    • , Jacobo Martinez
    • , Andreas Hadjisavvas
    • , Lei Song
    • , Irene Stefanaki
    • , Richard Scolyer
    • , Rose Yang
    • , Alisa M. Goldstein
    • , Miriam Potrony
    • , Katerina P. Kypreou
    • , Lorenza Pastorino
    • , Paola Queirolo
    • , Cristina Pellegrini
    • , Laura Cattaneo
    • , Matthew Zawistowski
    • , Pol Gimenez-Xavier
    • , Arantxa Rodriguez
    • , Lisa Elefanti
    • , Siranoush Manoukian
    • , Licia Rivoltini
    • , Blair H. Smith
    • , Maria A. Loizidou
    • , Laura Del Regno
    • , Daniela Massi
    • , Mario Mandala
    • , Kiarash Khosrotehrani
    • , Lars A. Akslen
    • , Christopher I. Amos
    • , Per A. Andresen
    • , Marie-Françoise Avril
    • , Esther Azizi
    • , H. Peter Soyer
    • , Veronique Bataille
    • , Bruna Dalmasso
    • , Lisa M. Bowdler
    • , Kathryn P. Burdon
    • , Wei V. Chen
    • , Veryan Codd
    • , Jamie E. Craig
    • , Tadeusz Dębniak
    • , Mario Falchi
    • , Shenying Fang
    • , Eitan Friedman
    • , Sarah Simi
    • , Pilar Galan
    • , Zaida Garcia-Casado
    • , Elizabeth M. Gillanders
    • , Scott Gordon
    • , Adele Green
    • , Nelleke A. Gruis
    • , Johan Hansson
    • , Mark Harland
    • , Jessica Harris
    • , Per Helsing
    • , Anjali Henders
    • , Marko Hočevar
    • , Veronica Höiom
    • , David Hunter
    • , Christian Ingvar
    • , Rajiv Kumar
    • , Julie Lang
    • , G. Mark Lathrop
    • , Jeffrey E. Lee
    • , Xin Li
    • , Jan Lubiński
    • , Rona M. Mackie
    • , Maryrose Malt
    • , Josep Malvehy
    • , Kerrie McAloney
    • , Hamida Mohamdi
    • , Anders Molven
    • , Eric K. Moses
    • , Rachel E. Neale
    • , Srdjan Novaković
    • , Dale R. Nyholt
    • , Håkan Olsson
    • , Nicholas Orr
    • , Lars G. Fritsche
    • , Joan Anton Puig-Butille
    • , Abrar A. Qureshi
    • , Graham L. Radford-Smith
    • , Juliette Randerson-Moor
    • , Celia Requena
    • , Casey Rowe
    • , Nilesh J. Samani
    • , Marianna Sanna
    • , Dirk Schadendorf
    • , Hans-Joachim Schulze
    • , Lisa A. Simms
    • , Mark Smithers
    • , Fengju Song
    • , Anthony J. Swerdlow
    • , Nienke van der Stoep
    • , Nicole A. Kukutsch
    • , Alessia Visconti
    • , Leanne Wallace
    • , Sarah V. Ward
    • , Lawrie Wheeler
    • , Richard A. Sturm
    • , Amy Hutchinson
    • , Kristine Jones
    • , Michael Malasky
    • , Aurelie Vogt
    • , Weiyin Zhou
    • , Karen A. Pooley
    • , David E. Elder
    • , Jiali Han
    • , Belynda Hicks
    • , Nicholas K. Hayward
    • , Peter A. Kanetsky
    • , Chad Brummett
    • , Grant W. Montgomery
    • , Catherine M. Olsen
    • , Caroline Hayward
    • , Alison M. Dunning
    • , Nicholas G. Martin
    • , Evangelos Evangelou
    • , Graham J. Mann
    • , Georgina Long
    • , Paul D. P. Pharoah
    • , Douglas F. Easton
    • , Jennifer H. Barrett
    • , Anne E. Cust
    • , Goncalo Abecasis
    • , David L. Duffy
    • , David C. Whiteman
    • , Helen Gogas
    • , Arcangela De Nicolo
    • , Margaret A. Tucker
    • , Julia A. Newton-Bishop
    • , Ketty Peris
    • , Stephen J. Chanock
    • , Florence Demenais
    • , Kevin M. Brown
    • , Susana Puig
    • , Eduardo Nagore
    • , Jianxin Shi
    • , Mark M. Iles
    •  & Matthew H. Law
  • Article
    | Open Access

    Sequencing and genomic diversification of five allopolyploid cotton species provide insights into polyploid genome evolution and epigenetic landscapes for cotton improvement.

    • Z. Jeffrey Chen
    • , Avinash Sreedasyam
    • , Atsumi Ando
    • , Qingxin Song
    • , Luis M. De Santiago
    • , Amanda M. Hulse-Kemp
    • , Mingquan Ding
    • , Wenxue Ye
    • , Ryan C. Kirkbride
    • , Jerry Jenkins
    • , Christopher Plott
    • , John Lovell
    • , Yu-Ming Lin
    • , Robert Vaughn
    • , Bo Liu
    • , Sheron Simpson
    • , Brian E. Scheffler
    • , Li Wen
    • , Christopher A. Saski
    • , Corrinne E. Grover
    • , Guanjing Hu
    • , Justin L. Conover
    • , Joseph W. Carlson
    • , Shengqiang Shu
    • , Lori B. Boston
    • , Melissa Williams
    • , Daniel G. Peterson
    • , Keith McGee
    • , Don C. Jones
    • , Jonathan F. Wendel
    • , David M. Stelly
    • , Jane Grimwood
    •  & Jeremy Schmutz
  • Article
    | Open Access

    Assembly of the first Gossypium herbaceum genome and improved Gossypium arboreum and Gossypium hirsutum genomes provide insights into the phylogenetic relationships and origin history of cotton A-genomes.

    • Gai Huang
    • , Zhiguo Wu
    • , Richard G. Percy
    • , Mingzhou Bai
    • , Yang Li
    • , James E. Frelichowski
    • , Jiang Hu
    • , Kun Wang
    • , John Z. Yu
    •  & Yuxian Zhu
  • Article |

    Depletion of RNA polymerase II pausing and elongation factor Spt5 in B cells indicates that ~50% of enhancer–gene pairs show co-regulated transcription. CRISPRa-mediated rescue of enhancer transcription in Spt5-depleted cells restores Igh gene expression.

    • Johanna Fitz
    • , Tobias Neumann
    • , Monika Steininger
    • , Eva-Maria Wiedemann
    • , Adriana Cantoran Garcia
    • , Alexander Athanasiadis
    • , Ursula E. Schoeberl
    •  & Rushad Pavri
  • Article |

    Whole-genome resequencing and association analyses in 424 soybean accessions identify two homeologous genes that contributed to flowering time adaptation during soybean domestication.

    • Sijia Lu
    • , Lidong Dong
    • , Chao Fang
    • , Shulin Liu
    • , Lingping Kong
    • , Qun Cheng
    • , Liyu Chen
    • , Tong Su
    • , Haiyang Nan
    • , Dan Zhang
    • , Lei Zhang
    • , Zhijuan Wang
    • , Yongqing Yang
    • , Deyue Yu
    • , Xiaolei Liu
    • , Qingyong Yang
    • , Xiaoya Lin
    • , Yang Tang
    • , Xiaohui Zhao
    • , Xinquan Yang
    • , Changen Tian
    • , Qiguang Xie
    • , Xia Li
    • , Xiaohui Yuan
    • , Zhixi Tian
    • , Baohui Liu
    • , James L. Weller
    •  & Fanjiang Kong
  • Article |

    Meta-analysis of genome-wide association studies of 542,934 individuals identifies 336 novel loci associated with refractive error and implicates eye development, circadian rhythm and pigmentation pathways in controlling myopia.

    • Pirro G. Hysi
    • , Hélène Choquet
    • , Anthony P. Khawaja
    • , Robert Wojciechowski
    • , Milly S. Tedja
    • , Jie Yin
    • , Mark J. Simcoe
    • , Karina Patasova
    • , Omar A. Mahroo
    • , Khanh K. Thai
    • , Phillippa M. Cumberland
    • , Ronald B. Melles
    • , Virginie J. M. Verhoeven
    • , Veronique Vitart
    • , Ayellet Segre
    • , Richard A. Stone
    • , Nick Wareham
    • , Alex W. Hewitt
    • , David A. Mackey
    • , Caroline C. W. Klaver
    • , Stuart MacGregor
    • , Peng T. Khaw
    • , Paul J. Foster
    • , Jeremy A. Guggenheim
    • , Jugnoo S. Rahi
    • , Eric Jorgenson
    •  & Christopher J. Hammond
  • Article |

    Analysis of 3D chromatin architecture in T-ALL identifies differences in intra-TAD interactions and TAD boundary insulation. Inhibition of oncogenic signal transduction or epigenetic regulation can alter specific 3D interactions.

    • Andreas Kloetgen
    • , Palaniraja Thandapani
    • , Panagiotis Ntziachristos
    • , Yohana Ghebrechristos
    • , Sofia Nomikou
    • , Charalampos Lazaris
    • , Xufeng Chen
    • , Hai Hu
    • , Sofia Bakogianni
    • , Jingjing Wang
    • , Yi Fu
    • , Francesco Boccalatte
    • , Hua Zhong
    • , Elisabeth Paietta
    • , Thomas Trimarchi
    • , Yixing Zhu
    • , Pieter Van Vlierberghe
    • , Giorgio G. Inghirami
    • , Timothee Lionnet
    • , Iannis Aifantis
    •  & Aristotelis Tsirigos
  • Article |

    CRISPR–Cas9 knockout screens in chemotherapy-treated acute myeloid leukemia cells help map the drug-dependent genetic basis of fitness trade-offs (antagonistic pleiotropy) for the design of evolutionary traps that target drug resistance in cancer.

    • Kevin H. Lin
    • , Justine C. Rutter
    • , Abigail Xie
    • , Bryann Pardieu
    • , Emily T. Winn
    • , Reinaldo Dal Bello
    • , Antoine Forget
    • , Raphael Itzykson
    • , Yeong-Ran Ahn
    • , Ziwei Dai
    • , Raiyan T. Sobhan
    • , Grace R. Anderson
    • , Katherine R. Singleton
    • , Amy E. Decker
    • , Peter S. Winter
    • , Jason W. Locasale
    • , Lorin Crawford
    • , Alexandre Puissant
    •  & Kris C. Wood
  • Article |

    An α-helical region conserved among FOXA pioneer factors interacts with core histones and promotes chromatin opening in vitro. This region also promotes chromatin opening in early mouse embryos and is required for normal development.

    • Makiko Iwafuchi
    • , Isabel Cuesta
    • , Greg Donahue
    • , Naomi Takenaka
    • , Anna B. Osipovich
    • , Mark A. Magnuson
    • , Heinrich Roder
    • , Steven H. Seeholzer
    • , Pilar Santisteban
    •  & Kenneth S. Zaret
  • Article |

    Replacement of lysine 4 or 36 with alanine in histone H3.3 impairs ESC differentiation and induces widespread gene expression changes. Expression of H3.3K4A, but not H3.3K36A, leads to H3.3 depletion, reduces remodeler binding and increases RNA polymerase II activity.

    • Maja Gehre
    • , Daria Bunina
    • , Simone Sidoli
    • , Marlena J. Lübke
    • , Nichole Diaz
    • , Matteo Trovato
    • , Benjamin A. Garcia
    • , Judith B. Zaugg
    •  & Kyung-Min Noh
  • Article |

    Analysis of whole-genome doubling (WGD) by using cancer sequencing data combined with simulations of tumor evolution suggests that there is negative selection against homozygous loss of essential genes before WGD but not after.

    • Saioa López
    • , Emilia L. Lim
    • , Stuart Horswell
    • , Kerstin Haase
    • , Ariana Huebner
    • , Michelle Dietzen
    • , Thanos P. Mourikis
    • , Thomas B. K. Watkins
    • , Andrew Rowan
    • , Sally M. Dewhurst
    • , Nicolai J. Birkbak
    • , Gareth A. Wilson
    • , Peter Van Loo
    • , Mariam Jamal-Hanjani
    • , Charles Swanton
    • , Mariam Jamal-Hanjani
    • , Gareth A. Wilson
    • , Nicolai J. Birkbak
    • , Thomas B. K. Watkins
    • , Nicholas McGranahan
    • , Christopher Abbosh
    • , Rachel Rosenthal
    • , Yin Wu
    • , Mickael Escudero
    • , Aengus Stewart
    • , Andrew Rowan
    • , Jacki Goldman
    • , Selvaraju Veeriah
    • , Marcin Skrzypski
    • , Robert E. Hynds
    • , Andy Georgiou
    • , Mariana Werner Sunderland
    • , James Reading
    • , Sergio Quezada
    • , Karl Peggs
    • , Teresa Marafioti
    • , Peter Van Loo
    • , John A. Hartley
    • , Richard Kevin Stone
    • , Tamara Denner
    • , Emma Nye
    • , Sophia Ward
    • , Emilia L. Lim
    • , Stefan Boeing
    • , Maria Greco
    • , Maise Al-Bakir
    • , Kevin Litchfield
    • , Pat Gorman
    • , Helen L. Lowe
    • , Leah Ensell
    • , Victoria Spanswick
    • , Angeliki Karamani
    • , David Moore
    • , Dhruva Biswas
    • , Maryam Razaq
    • , Jerome Nicod
    • , Stephan Beck
    • , Ariana Huebner
    • , Michelle Dietzen
    • , Cristina Naceur-Lombardelli
    • , Mita Afroza Akther
    • , Haoran Zhai
    • , Nnennaya Kannu
    • , Elizabeth Manzano
    • , Clare Puttick
    • , Katey Enfield
    • , Emma Colliver
    • , Brittany Campbell
    • , Supreet Kaur Bola
    • , Ehsan Ghorani
    • , Marc Robert De Massy
    • , Elena Hoxha
    • , Emine Hatipoglu
    • , Stephanie Ogwuru
    • , Benny Chain
    • , Jason Lester
    • , Fiona Morgan
    • , Malgorzata Kornaszewska
    • , Richard Attanoos
    • , Haydn Adams
    • , Helen Davies
    • , Dean Fennell
    • , John Le Quesne
    • , Apostolos Nakas
    • , Sridhar Rathinam
    • , William Monteiro
    • , Hilary Marshall
    • , Louise Nelson
    • , Kim Ryanna
    • , Alan Dawson
    • , Mohamad Tuffail
    • , Amrita Bajaj
    • , Jan Brozik
    • , Mark R. Lovett
    • , Jacqui A. Shaw
    • , Joan Riley
    • , Lindsay Primrose
    • , Luke Martinson
    • , Nicolas Carey
    • , Girija Anand
    • , Sajid Khan
    • , Gillian Price
    • , Marianne Nicolson
    • , Keith Kerr
    • , Shirley Palmer
    • , Hardy Remmen
    • , Joy Miller
    • , Keith Buchan
    • , Mahendran Chetty
    • , Lesley Gomersall
    • , Sara Lock
    • , Kayleigh Gilbert
    • , Babu Naidu
    • , Gerald Langman
    • , Andrew Robinson
    • , Hollie Bancroft
    • , Amy Kerr
    • , Salma Kadiri
    • , Charlotte Ferris
    • , Gary Middleton
    • , Madava Djearaman
    • , Akshay Patel
    • , Yvonne Summers
    • , Raffaele Califano
    • , Paul Taylor
    • , Rajesh Shah
    • , Piotr Krysiak
    • , Kendadai Rammohan
    • , Eustace Fontaine
    • , Richard Booton
    • , Matthew Evison
    • , Phil Crosbie
    • , Stuart Moss
    • , Juliette Novasio
    • , Leena Joseph
    • , Paul Bishop
    • , Anshuman Chaturvedi
    • , Helen Doran
    • , Felice Granato
    • , Vijay Joshi
    • , Angela leek
    • , Phil Harrison
    • , Katrina Moore
    • , Rachael Waddington
    • , Fiona Blackhall
    • , Jane Rogan
    • , Elaine Smith
    • , Katie Baker
    • , Mathew Carter
    • , Lynsey Priest
    • , Matthew G. Krebs
    • , C. R. Lindsay
    • , Fabio Gomes
    • , Angeles Montero
    • , Caroline Dive
    • , Ged Brady
    • , Dominic G. Rothwell
    • , Francesca Chemi
    • , Jonathan Tugwood
    • , Jackie Pierce
    • , David Lawrence
    • , Martin Hayward
    • , Nikolaos Panagiotopoulos
    • , Robert George
    • , Davide Patrini
    • , Mary Falzon
    • , Elaine Borg
    • , Reena Khiroya
    • , Crispin Hiley
    • , Asia Ahmed
    • , Magali Taylor
    • , Junaid Choudhary
    • , Penny Shaw
    • , Sam M. Janes
    • , Martin Forster
    • , Tanya Ahmad
    • , Siow Ming Lee
    • , Javier Herrero
    • , Dawn Carnell
    • , Ruheena Mendes
    • , Jeremy George
    • , Neal Navani
    • , Dionysis Papadatos-Pastos
    • , Marco Scarci
    • , Roberto Salgado
    • , Elisa Bertoja
    • , Robert C. M. Stephens
    • , Emilie Martinoni Hoogenboom
    • , James W. Holding
    • , Steve Bandula
    • , Hugo Aerts
    • , Roland Schwarz
    • , Zoltan Szallasi
    • , Istvan Csabai
    • , Miklos Diossy
    • , Mairead MacKenzie
    • , Maggie Wilcox
    • , Allan Hackshaw
    • , Yenting Ngai
    • , Abigail Sharp
    • , Cristina Rodrigues
    • , Oliver Pressey
    • , Sean Smith
    • , Nicole Gower
    • , Harjot Dhanda
    • , Christian Ottensmeier
    • , Serena Chee
    • , Benjamin Johnson
    • , Aiman Alzetani
    • , Emily Shaw
    • , Eric Lim
    • , Paulo De Sousa
    • , Simon Jordan
    • , Alexandra Rice
    • , Hilgardt Raubenheimer
    • , Harshil Bhayani
    • , Morag Hamilton
    • , Lyn Ambrose
    • , Anand Devaraj
    • , Hema Chavan
    • , Sofina Begum
    • , Aleksander Mani
    • , Daniel Kaniu
    • , Mpho Malima
    • , Sarah Booth
    • , Andrew G. Nicholson
    • , Nadia Fernandes
    • , Jessica E. Wallen
    • , Pratibha Shah
    • , Kelvin Lau
    • , Michael Sheaff
    • , Peter Schmid
    • , Louise Lim
    • , John Conibear
    • , Veni Ezhil
    • , Vineet Prakash
    • , Sarah Danson
    • , Jonathan Bury
    • , John Edwards
    • , Jennifer Hill
    • , Sue Matthews
    • , Yota Kitsanta
    • , Jagan Rao
    • , Sara Tenconi
    • , Laura Socci
    • , Kim Suvarna
    • , Faith Kibutu
    • , Patricia Fisher
    • , Robin Young
    • , Joann Barker
    • , Michael Shackcloth
    • , John Gosney
    • , Sarah Feeney
    • , Julius Asante-Siaw
    • , Teresa Light
    • , Tracey Horey
    • , Dionysis Papadatos-Pastos
    • , Peter Russell
    • , Kevin G. Blyth
    • , Craig Dick
    • , Andrew Kidd
    • , Alan Kirk
    • , Mo Asif
    • , John Butler
    • , Rocco Bilanca
    • , Nikos Kostoulas
    • , Charles Swanton
    •  & Nicholas McGranahan
  • Article |

    Chromatin interaction analysis identifies PRC2-bound silencers in mESCs, which, when deleted in mice, can lead to developmental phenotypes. Silencers in pluripotent cells can transition into active tissue-specific enhancers during development.

    • Chew Yee Ngan
    • , Chee Hong Wong
    • , Harianto Tjong
    • , Wenbo Wang
    • , Rachel L. Goldfeder
    • , Cindy Choi
    • , Hao He
    • , Liang Gong
    • , Junyan Lin
    • , Barbara Urban
    • , Julianna Chow
    • , Meihong Li
    • , Joanne Lim
    • , Vivek Philip
    • , Stephen A. Murray
    • , Haoyi Wang
    •  & Chia-Lin Wei
  • Article |

    A genome-wide screen identifies silencer regions in human cells. Deletion of silencers linked to the transporter genes ABCC2 and ABCG2 causes their up-regulation and chemo-resistance.

    • Baoxu Pang
    •  & Michael P. Snyder
  • Article |

    Naphthyridine-azaquinolone specifically binds slipped-CAG DNA intermediates, induces contractions of expanded repeats and reduces mutant HTT protein aggregates in cell and animal models of Huntington’s disease.

    • Masayuki Nakamori
    • , Gagan B. Panigrahi
    • , Stella Lanni
    • , Terence Gall-Duncan
    • , Hideki Hayakawa
    • , Hana Tanaka
    • , Jennifer Luo
    • , Takahiro Otabe
    • , Jinxing Li
    • , Akihiro Sakata
    • , Marie-Christine Caron
    • , Niraj Joshi
    • , Tanya Prasolava
    • , Karen Chiang
    • , Jean-Yves Masson
    • , Marc S. Wold
    • , Xiaoxiao Wang
    • , Marietta Y. W. T. Lee
    • , John Huddleston
    • , Katherine M. Munson
    • , Scott Davidson
    • , Mehdi Layeghifard
    • , Lisa-Monique Edward
    • , Richard Gallon
    • , Mauro Santibanez-Koref
    • , Asako Murata
    • , Masanori P. Takahashi
    • , Evan E. Eichler
    • , Adam Shlien
    • , Kazuhiko Nakatani
    • , Hideki Mochizuki
    •  & Christopher E. Pearson
  • Article |

    A mouse model that combines nitrosamide exposure with inducible, tissue-specific TP53 alterations is used to generate premalignant gastric organoids and provides insights into the development of gastric premalignancy.

    • Nilay S. Sethi
    • , Osamu Kikuchi
    • , Gina N. Duronio
    • , Matthew D. Stachler
    • , James M. McFarland
    • , Ruben Ferrer-Luna
    • , Yanxi Zhang
    • , Chunyang Bao
    • , Roderick Bronson
    • , Deepa Patil
    • , Francisco Sanchez-Vega
    • , Jie-Bin Liu
    • , Ewa Sicinska
    • , Jean-Bernard Lazaro
    • , Keith L. Ligon
    • , Rameen Beroukhim
    •  & Adam J. Bass
  • Article
    | Open Access

    Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

    • Marc Zapatka
    • , Ivan Borozan
    • , Daniel S. Brewer
    • , Murat Iskar
    • , Adam Grundhoff
    • , Malik Alawi
    • , Nikita Desai
    • , Holger Sültmann
    • , Holger Moch
    • , Malik Alawi
    • , Colin S. Cooper
    • , Roland Eils
    • , Vincent Ferretti
    • , Peter Lichter
    • , Ivan Borozan
    • , Daniel S. Brewer
    • , Colin S. Cooper
    • , Nikita Desai
    • , Roland Eils
    • , Vincent Ferretti
    • , Adam Grundhoff
    • , Murat Iskar
    • , Kortine Kleinheinz
    • , Peter Lichter
    • , Hidewaki Nakagawa
    • , Akinyemi I. Ojesina
    • , Chandra Sekhar Pedamallu
    • , Matthias Schlesner
    • , Xiaoping Su
    •  & Marc Zapatka
  • Article
    | Open Access

    A pan-cancer genomic analysis reports the effects of structural variations on chromatin domains (TADs). Most TAD disruptions do not result in appreciable changes in expression of nearby genes.

    • Kadir C. Akdemir
    • , Victoria T. Le
    • , Sahaana Chandran
    • , Yilong Li
    • , Roel G. Verhaak
    • , Rameen Beroukhim
    • , Peter J. Campbell
    • , Lynda Chin
    • , Jesse R. Dixon
    • , P. Andrew Futreal
    • , Kadir C. Akdemir
    • , Eva G. Alvarez
    • , Adrian Baez-Ortega
    • , Rameen Beroukhim
    • , Paul C. Boutros
    • , David D. L. Bowtell
    • , Benedikt Brors
    • , Kathleen H. Burns
    • , Peter J. Campbell
    • , Kin Chan
    • , Ken Chen
    • , Isidro Cortés-Ciriano
    • , Ana Dueso-Barroso
    • , Andrew J. Dunford
    • , Paul A. Edwards
    • , Xavier Estivill
    • , Dariush Etemadmoghadam
    • , Lars Feuerbach
    • , J. Lynn Fink
    • , Milana Frenkel-Morgenstern
    • , Dale W. Garsed
    • , Mark Gerstein
    • , Dmitry A. Gordenin
    • , David Haan
    • , James E. Haber
    • , Julian M. Hess
    • , Barbara Hutter
    • , Marcin Imielinski
    • , David T. W. Jones
    • , Young Seok Ju
    • , Marat D. Kazanov
    • , Leszek J. Klimczak
    • , Youngil Koh
    • , Jan O. Korbel
    • , Kiran Kumar
    • , Eunjung Alice Lee
    • , Jake June-Koo Lee
    • , Yilong Li
    • , Andy G. Lynch
    • , Geoff Macintyre
    • , Florian Markowetz
    • , Iñigo Martincorena
    • , Alexander Martinez-Fundichely
    • , Matthew Meyerson
    • , Satoru Miyano
    • , Hidewaki Nakagawa
    • , Fabio C. P. Navarro
    • , Stephan Ossowski
    • , Peter J. Park
    • , John V. Pearson
    • , Montserrat Puiggròs
    • , Karsten Rippe
    • , Nicola D. Roberts
    • , Steven A. Roberts
    • , Bernardo Rodriguez-Martin
    • , Steven E. Schumacher
    • , Ralph Scully
    • , Mark Shackleton
    • , Nikos Sidiropoulos
    • , Lina Sieverling
    • , Chip Stewart
    • , David Torrents
    • , Jose M. C. Tubio
    • , Izar Villasante
    • , Nicola Waddell
    • , Jeremiah A. Wala
    • , Joachim Weischenfeldt
    • , Lixing Yang
    • , Xiaotong Yao
    • , Sung-Soo Yoon
    • , Jorge Zamora
    •  & Cheng-Zhong Zhang
  • Article
    | Open Access

    An analysis of 2,954 genomes from 38 cancer subtypes identified 19,166 retrotransposition events in 35% of samples. Aberrant LINE-1 retrotranspositions can lead to the deletion of tumor-suppressor genes as well as the amplification of oncogenes.

    • Bernardo Rodriguez-Martin
    • , Eva G. Alvarez
    • , Adrian Baez-Ortega
    • , Jorge Zamora
    • , Fran Supek
    • , Jonas Demeulemeester
    • , Martin Santamarina
    • , Young Seok Ju
    • , Javier Temes
    • , Daniel Garcia-Souto
    • , Harald Detering
    • , Yilong Li
    • , Jorge Rodriguez-Castro
    • , Ana Dueso-Barroso
    • , Alicia L. Bruzos
    • , Stefan C. Dentro
    • , Miguel G. Blanco
    • , Gianmarco Contino
    • , Daniel Ardeljan
    • , Marta Tojo
    • , Nicola D. Roberts
    • , Sonia Zumalave
    • , Paul A. W. Edwards
    • , Joachim Weischenfeldt
    • , Montserrat Puiggròs
    • , Zechen Chong
    • , Ken Chen
    • , Eunjung Alice Lee
    • , Jeremiah A. Wala
    • , Keiran Raine
    • , Adam Butler
    • , Sebastian M. Waszak
    • , Fabio C. P. Navarro
    • , Steven E. Schumacher
    • , Jean Monlong
    • , Francesco Maura
    • , Niccolo Bolli
    • , Guillaume Bourque
    • , Mark Gerstein
    • , Peter J. Park
    • , David C. Wedge
    • , Rameen Beroukhim
    • , David Torrents
    • , Jan O. Korbel
    • , Inigo Martincorena
    • , Rebecca C. Fitzgerald
    • , Peter Van Loo
    • , Haig H. Kazazian
    • , Kathleen H. Burns
    • , Kadir C. Akdemir
    • , Eva G. Alvarez
    • , Adrian Baez-Ortega
    • , Rameen Beroukhim
    • , Paul C. Boutros
    • , David D. L. Bowtell
    • , Benedikt Brors
    • , Kathleen H. Burns
    • , Peter J. Campbell
    • , Kin Chan
    • , Ken Chen
    • , Isidro Cortés-Ciriano
    • , Ana Dueso-Barroso
    • , Andrew J. Dunford
    • , Paul A. Edwards
    • , Xavier Estivill
    • , Dariush Etemadmoghadam
    • , Lars Feuerbach
    • , J. Lynn Fink
    • , Milana Frenkel-Morgenstern
    • , Dale W. Garsed
    • , Mark Gerstein
    • , Dmitry A. Gordenin
    • , David Haan
    • , James E. Haber
    • , Julian M. Hess
    • , Barbara Hutter
    • , Marcin Imielinski
    • , David T. W. Jones
    • , Young Seok Ju
    • , Marat D. Kazanov
    • , Leszek J. Klimczak
    • , Youngil Koh
    • , Jan O. Korbel
    • , Kiran Kumar
    • , Eunjung Alice Lee
    • , Jake June-Koo Lee
    • , Yilong Li
    • , Andy G. Lynch
    • , Geoff Macintyre
    • , Florian Markowetz
    • , Iñigo Martincorena
    • , Alexander Martinez-Fundichely
    • , Matthew Meyerson
    • , Satoru Miyano
    • , Hidewaki Nakagawa
    • , Fabio C. P. Navarro
    • , Stephan Ossowski
    • , Peter J. Park
    • , John V. Pearson
    • , Montserrat Puiggròs
    • , Karsten Rippe
    • , Nicola D. Roberts
    • , Steven A. Roberts
    • , Bernardo Rodriguez-Martin
    • , Steven E. Schumacher
    • , Ralph Scully
    • , Mark Shackleton
    • , Nikos Sidiropoulos
    • , Lina Sieverling
    • , Chip Stewart
    • , David Torrents
    • , Jose M. C. Tubio
    • , Izar Villasante
    • , Nicola Waddell
    • , Jeremiah A. Wala
    • , Joachim Weischenfeldt
    • , Lixing Yang
    • , Xiaotong Yao
    • , Sung-Soo Yoon
    • , Jorge Zamora
    • , Cheng-Zhong Zhang
    • , Peter J. Campbell
    •  & Jose M. C. Tubio
  • Article |

    MutPanning is a new method to detect cancer driver genes that identifies genes with an excess of mutations in unusual nucleotide contexts. Applying this to whole-exome sequencing data from 11,873 tumor–normal pairs identifies 460 driver genes.

    • Felix Dietlein
    • , Donate Weghorn
    • , Amaro Taylor-Weiner
    • , André Richters
    • , Brendan Reardon
    • , David Liu
    • , Eric S. Lander
    • , Eliezer M. Van Allen
    •  & Shamil R. Sunyaev
  • Article |

    Genomic and transcriptomic analysis of lung adenocarcinoma (LUAD) in Asia indicates that Asian LUADs have fewer mutations, lower driver prevalence and fewer copy number alterations than European LUADs.

    • Jianbin Chen
    • , Hechuan Yang
    • , Audrey Su Min Teo
    • , Lidyana Bte Amer
    • , Faranak Ghazi Sherbaf
    • , Chu Quan Tan
    • , Jacob Josiah Santiago Alvarez
    • , Bingxin Lu
    • , Jia Qi Lim
    • , Angela Takano
    • , Rahul Nahar
    • , Yin Yeng Lee
    • , Cheryl Zi Jin Phua
    • , Khi Pin Chua
    • , Lisda Suteja
    • , Pauline Jieqi Chen
    • , Mei Mei Chang
    • , Tina Puay Theng Koh
    • , Boon-Hean Ong
    • , Devanand Anantham
    • , Anne Ann Ling Hsu
    • , Apoorva Gogna
    • , Chow Wei Too
    • , Zaw Win Aung
    • , Yi Fei Lee
    • , Lanying Wang
    • , Tony Kiat Hon Lim
    • , Andreas Wilm
    • , Poh Sum Choi
    • , Poh Yong Ng
    • , Chee Keong Toh
    • , Wan-Teck Lim
    • , Siming Ma
    • , Bing Lim
    • , Jin Liu
    • , Wai Leong Tam
    • , Anders Jacobsen Skanderup
    • , Joe Poh Sheng Yeong
    • , Eng-Huat Tan
    • , Caretha L. Creasy
    • , Daniel Shao Weng Tan
    • , Axel M. Hillmer
    •  & Weiwei Zhai
  • Article |

    Multitrait genome-wide analysis of glaucoma and related phenotypes identifies new risk loci and enables development of a polygenic risk score to predict disease susceptibility and key clinical outcomes.

    • Jamie E. Craig
    • , Xikun Han
    • , Ayub Qassim
    • , Mark Hassall
    • , Jessica N. Cooke Bailey
    • , Tyler G. Kinzy
    • , Anthony P. Khawaja
    • , Jiyuan An
    • , Henry Marshall
    • , Puya Gharahkhani
    • , Robert P. Igo Jr.
    • , Stuart L. Graham
    • , Paul R. Healey
    • , Jue-Sheng Ong
    • , Tiger Zhou
    • , Owen Siggs
    • , Matthew H. Law
    • , Emmanuelle Souzeau
    • , Bronwyn Ridge
    • , Pirro G. Hysi
    • , Kathryn P. Burdon
    • , Richard A. Mills
    • , John Landers
    • , Jonathan B. Ruddle
    • , Ashish Agar
    • , Anna Galanopoulos
    • , Andrew J. R. White
    • , Colin E. Willoughby
    • , Nicholas H. Andrew
    • , Stephen Best
    • , Andrea L. Vincent
    • , Ivan Goldberg
    • , Graham Radford-Smith
    • , Nicholas G. Martin
    • , Grant W. Montgomery
    • , Veronique Vitart
    • , Rene Hoehn
    • , Robert Wojciechowski
    • , Jost B. Jonas
    • , Tin Aung
    • , Louis R. Pasquale
    • , Angela Jane Cree
    • , Sobha Sivaprasad
    • , Neeru A. Vallabh
    • , Ananth C. Viswanathan
    • , Francesca Pasutto
    • , Jonathan L. Haines
    • , Caroline C. W. Klaver
    • , Cornelia M. van Duijn
    • , Robert J. Casson
    • , Paul J. Foster
    • , Peng Tee Khaw
    • , Christopher J. Hammond
    • , David A. Mackey
    • , Paul Mitchell
    • , Andrew J. Lotery
    • , Janey L. Wiggs
    • , Alex W. Hewitt
    •  & Stuart MacGregor
  • Article |

    Genome-wide association analysis of 1,172 urinary metabolites identifies 240 metabolite–locus associations that when combined with UK Biobank data suggest novel metabolic mediators of disease and markers of disease risk.

    • Pascal Schlosser
    • , Yong Li
    • , Peggy Sekula
    • , Johannes Raffler
    • , Franziska Grundner-Culemann
    • , Maik Pietzner
    • , Yurong Cheng
    • , Matthias Wuttke
    • , Inga Steinbrenner
    • , Ulla T. Schultheiss
    • , Fruzsina Kotsis
    • , Tim Kacprowski
    • , Lukas Forer
    • , Birgit Hausknecht
    • , Arif B. Ekici
    • , Matthias Nauck
    • , Uwe Völker
    • , Gerd Walz
    • , Peter J. Oefner
    • , Florian Kronenberg
    • , Robert P. Mohney
    • , Michael Köttgen
    • , Karsten Suhre
    • , Kai-Uwe Eckardt
    • , Gabi Kastenmüller
    •  & Anna Köttgen
  • Article |

    Whole-genome sequencing, transcriptome sequencing and single-cell analysis of primary and metastatic pancreatic adenocarcinoma identify molecular subtypes and intratumor heterogeneity.

    • Michelle Chan-Seng-Yue
    • , Jaeseung C. Kim
    • , Gavin W. Wilson
    • , Karen Ng
    • , Eugenia Flores Figueroa
    • , Grainne M. O’Kane
    • , Ashton A. Connor
    • , Robert E. Denroche
    • , Robert C. Grant
    • , Jessica McLeod
    • , Julie M. Wilson
    • , Gun Ho Jang
    • , Amy Zhang
    • , Anna Dodd
    • , Sheng-Ben Liang
    • , Ayelet Borgida
    • , Dianne Chadwick
    • , Sangeetha Kalimuthu
    • , Ilinca Lungu
    • , John M. S. Bartlett
    • , Paul M. Krzyzanowski
    • , Vandana Sandhu
    • , Hervé Tiriac
    • , Fieke E. M. Froeling
    • , Joanna M. Karasinska
    • , James T. Topham
    • , Daniel J. Renouf
    • , David F. Schaeffer
    • , Steven J. M. Jones
    • , Marco A. Marra
    • , Janessa Laskin
    • , Runjan Chetty
    • , Lincoln D. Stein
    • , George Zogopoulos
    • , Benjamin Haibe-Kains
    • , Peter J. Campbell
    • , David A. Tuveson
    • , Jennifer J. Knox
    • , Sandra E. Fischer
    • , Steven Gallinger
    •  & Faiyaz Notta
  • Article |

    A CRISPR–CAS9 screen, analysis of patient data, and functional in vivo and in vitro experiments identify a critical role for ARID1A in determining breast luminal cell identity and endocrine therapeutic response in estrogen-receptor-positive breast cancer.

    • Guotai Xu
    • , Sagar Chhangawala
    • , Emiliano Cocco
    • , Pedram Razavi
    • , Yanyan Cai
    • , Jordan E Otto
    • , Lorenzo Ferrando
    • , Pier Selenica
    • , Erik Ladewig
    • , Carmen Chan
    • , Arnaud Da Cruz Paula
    • , Matthew Witkin
    • , Yuanming Cheng
    • , Jane Park
    • , Cristian Serna-Tamayo
    • , HuiYong Zhao
    • , Fan Wu
    • , Mirna Sallaku
    • , Xuan Qu
    • , Alison Zhao
    • , Clayton K Collings
    • , Andrew R. D’Avino
    • , Komal Jhaveri
    • , Richard Koche
    • , Ross L. Levine
    • , Jorge S. Reis-Filho
    • , Cigall Kadoch
    • , Maurizio Scaltriti
    • , Christina S. Leslie
    • , José Baselga
    •  & Eneda Toska
  • Article |

    Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

    • Laura Fachal
    • , Hugues Aschard
    • , Jonathan Beesley
    • , Daniel R. Barnes
    • , Jamie Allen
    • , Siddhartha Kar
    • , Karen A. Pooley
    • , Joe Dennis
    • , Kyriaki Michailidou
    • , Constance Turman
    • , Penny Soucy
    • , Audrey Lemaçon
    • , Michael Lush
    • , Jonathan P. Tyrer
    • , Maya Ghoussaini
    • , Mahdi Moradi Marjaneh
    • , Xia Jiang
    • , Simona Agata
    • , Kristiina Aittomäki
    • , M. Rosario Alonso
    • , Irene L. Andrulis
    • , Hoda Anton-Culver
    • , Natalia N. Antonenkova
    • , Adalgeir Arason
    • , Volker Arndt
    • , Kristan J. Aronson
    • , Banu K. Arun
    • , Bernd Auber
    • , Paul L. Auer
    • , Jacopo Azzollini
    • , Judith Balmaña
    • , Rosa B. Barkardottir
    • , Daniel Barrowdale
    • , Alicia Beeghly-Fadiel
    • , Javier Benitez
    • , Marina Bermisheva
    • , Katarzyna Białkowska
    • , Amie M. Blanco
    • , Carl Blomqvist
    • , William Blot
    • , Natalia V. Bogdanova
    • , Stig E. Bojesen
    • , Manjeet K. Bolla
    • , Bernardo Bonanni
    • , Ake Borg
    • , Kristin Bosse
    • , Hiltrud Brauch
    • , Hermann Brenner
    • , Ignacio Briceno
    • , Ian W. Brock
    • , Angela Brooks-Wilson
    • , Thomas Brüning
    • , Barbara Burwinkel
    • , Saundra S. Buys
    • , Qiuyin Cai
    • , Trinidad Caldés
    • , Maria A. Caligo
    • , Nicola J. Camp
    • , Ian Campbell
    • , Federico Canzian
    • , Jason S. Carroll
    • , Brian D. Carter
    • , Jose E. Castelao
    • , Jocelyne Chiquette
    • , Hans Christiansen
    • , Wendy K. Chung
    • , Kathleen B. M. Claes
    • , Christine L. Clarke
    • , Véronique Mari
    • , Pascaline Berthet
    • , Laurent Castera
    • , Dominique Vaur
    • , Hakima Lallaoui
    • , Yves-Jean Bignon
    • , Nancy Uhrhammer
    • , Valérie Bonadona
    • , Christine Lasset
    • , Françoise Révillion
    • , Paul Vennin
    • , Daniele Muller
    • , Denise Molina Gomes
    • , Olivier Ingster
    • , Isabelle Coupier
    • , Pascal Pujol
    • , Marie-Agnès Collonge-Rame
    • , Isabelle Mortemousque
    • , Odile Bera
    • , Mickaelle Rose
    • , Amandine Baurand
    • , Geoffrey Bertolone
    • , Laurence Faivre
    • , Hélène Dreyfus
    • , Dominique Leroux
    • , Laurence Venat-Bouvet
    • , Stéphane Bézieau
    • , Capucine Delnatte
    • , Jean Chiesa
    • , Brigitte Gilbert-Dussardier
    • , Paul Gesta
    • , Fabienne Prieur Prieur
    • , Myriam Bronner
    • , Johanna Sokolowska
    • , Florence Coulet
    • , Nadia Boutry-Kryza
    • , Alain Calender
    • , Sophie Giraud
    • , Mélanie Leone
    • , Sandra Fert-Ferrer
    • , Dominique Stoppa-Lyonnet
    • , Yue Jiao
    • , Fabienne Lesueur Lesueur
    • , Noura Mebirouk
    • , Emmanuelle Barouk-Simonet
    • , Virginie Bubien
    • , Michel Longy
    • , Nicolas Sevenet
    • , Laurence Gladieff
    • , Christine Toulas
    • , Audrey Reimineras
    • , Hagay Sobol
    • , Brigitte Bressac-de Paillerets
    • , Odile Cabaret
    • , Olivier Caron
    • , Marine Guillaud-Bataille
    • , Etienne Rouleau
    • , Muriel Belotti
    • , Bruno Buecher
    • , Sandrine Caputo
    • , Chrystelle Colas
    • , Antoine De Pauw
    • , Emmanuelle Fourme
    • , Marion Gauthier-Villars
    • , Lisa Golmard
    • , Virginie Moncoutier
    • , Claire Saule
    • , Alan Donaldson
    • , Alex Murray
    • , Angela Brady
    • , Carole Brewer
    • , Caroline Pottinger
    • , Clare Miller
    • , David Gallagher
    • , Helen Gregory
    • , Jackie Cook
    • , Jacqueline Eason
    • , Julian Adlard
    • , Julian Barwell
    • , Kai-Ren Ong
    • , Katie Snape
    • , Lisa Walker
    • , Louise Izatt
    • , Lucy Side
    • , Marc Tischkowitz
    • , Mark T. Rogers
    • , Mary E. Porteous
    • , Munaza Ahmed
    • , Patrick J. Morrison
    • , Paul Brennan
    • , Ros Eeles
    • , Rosemarie Davidson
    • , J. Margriet Collée
    • , Sten Cornelissen
    • , Fergus J. Couch
    • , Angela Cox
    • , Simon S. Cross
    • , Cezary Cybulski
    • , Kamila Czene
    • , Mary B. Daly
    • , Miguel de la Hoya
    • , Peter Devilee
    • , Orland Diez
    • , Yuan Chun Ding
    • , Gillian S. Dite
    • , Susan M. Domchek
    • , Thilo Dörk
    • , Isabel dos-Santos-Silva
    • , Arnaud Droit
    • , Stéphane Dubois
    • , Martine Dumont
    • , Mercedes Duran
    • , Lorraine Durcan
    • , Miriam Dwek
    • , Diana M. Eccles
    • , Christoph Engel
    • , Mikael Eriksson
    • , D. Gareth Evans
    • , Peter A. Fasching
    • , Olivia Fletcher
    • , Giuseppe Floris
    • , Henrik Flyger
    • , Lenka Foretova
    • , William D. Foulkes
    • , Eitan Friedman
    • , Lin Fritschi
    • , Debra Frost
    • , Marike Gabrielson
    • , Manuela Gago-Dominguez
    • , Gaetana Gambino
    • , Patricia A. Ganz
    • , Susan M. Gapstur
    • , Judy Garber
    • , José A. García-Sáenz
    • , Mia M. Gaudet
    • , Vassilios Georgoulias
    • , Graham G. Giles
    • , Gord Glendon
    • , Andrew K. Godwin
    • , Mark S. Goldberg
    • , David E. Goldgar
    • , Anna González-Neira
    • , Maria Grazia Tibiletti
    • , Mark H. Greene
    • , Mervi Grip
    • , Jacek Gronwald
    • , Anne Grundy
    • , Pascal Guénel
    • , Eric Hahnen
    • , Christopher A. Haiman
    • , Niclas Håkansson
    • , Per Hall
    • , Ute Hamann
    • , Patricia A. Harrington
    • , Jaana M. Hartikainen
    • , Mikael Hartman
    • , Wei He
    • , Catherine S. Healey
    • , Bernadette A. M. Heemskerk-Gerritsen
    • , Jane Heyworth
    • , Peter Hillemanns
    • , Frans B. L. Hogervorst
    • , Antoinette Hollestelle
    • , Maartje J. Hooning
    • , John L. Hopper
    • , Anthony Howell
    • , Guanmengqian Huang
    • , Peter J. Hulick
    • , Evgeny N. Imyanitov
    • , Adrienne Sexton
    • , Alice Christian
    • , Alison Trainer
    • , Allan Spigelman
    • , Andrew Fellows
    • , Andrew Shelling
    • , Anna De Fazio
    • , Anneke Blackburn
    • , Ashley Crook
    • , Bettina Meiser
    • , Briony Patterson
    • , Christine Clarke
    • , Christobel Saunders
    • , Clare Hunt
    • , Clare Scott
    • , David Amor
    • , Deb Marsh
    • , Edward Edkins
    • , Elizabeth Salisbury
    • , Eric Haan
    • , Eveline Neidermayr
    • , Finlay Macrea
    • , Gelareh Farshid
    • , Geoff Lindeman
    • , Georgia Trench
    • , Graham Mann
    • , Graham Giles
    • , Grantley Gill
    • , Heather Thorne
    • , Ian Campbell
    • , Ian Hickie
    • , Ingrid Winship
    • , James Flanagan
    • , James Kollias
    • , Jane Visvader
    • , Jennifer Stone
    • , Jessica Taylor
    • , Jo Burke
    • , Jodi Saunus
    • , John Forbes
    • , John Hopper
    • , Jonathan Beesley
    • , Judy Kirk
    • , Juliet French
    • , Kathy Tucker
    • , Kathy Wu
    • , Kelly Phillips
    • , Lara Lipton
    • , Leslie Andrews
    • , Lizz Lobb
    • , Logan Walker
    • , Maira Kentwell
    • , Mandy Spurdle
    • , Margaret Cummings
    • , Margaret Gleeson
    • , Marion Harris
    • , Mark Jenkins
    • , Mary Anne Young
    • , Martin Delatycki
    • , Mathew Wallis
    • , Matthew Burgess
    • , Melanie Price
    • , Melissa Brown
    • , Melissa Southey
    • , Michael Bogwitz
    • , Michael Field
    • , Michael Friedlander
    • , Michael Gattas
    • , Mona Saleh
    • , Nick Hayward
    • , Nick Pachter
    • , Paul Cohen
    • , Pascal Duijf
    • , Paul James
    • , Pete Simpson
    • , Peter Fong
    • , Phyllis Butow
    • , Rachael Williams
    • , Rick Kefford
    • , Rodney Scott
    • , Roger Milne
    • , Rosemary Balleine
    • , Sarah–Jane Dawson
    • , Sheau Lok
    • , Shona O’Connell
    • , Sian Greening
    • , Sophie Nightingale
    • , Stacey Edwards
    • , Stephen Fox
    • , Sue-Anne McLachlan
    • , Sunil Lakhani
    • , Yoland Antill
    • , Cora Aalfs
    • , Hanne Meijers-Heijboer
    • , Klaartje van Engelen
    • , Hans Gille
    • , Ingrid Boere
    • , Margriet Collée
    • , Carolien van Deurzen
    • , Maartje Hooning
    • , Inge-Marie Obdeijn
    • , Ans van den Ouweland
    • , Caroline Seynaeve
    • , Sabine Siesling
    • , Janneke Verloop
    • , Christi van Asperen
    • , Peter Devilee
    • , Twiggy van Cronenburg
    • , Rien Blok
    • , Maaike de Boer
    • , Encarna Gómez Garcia
    • , Muriel Adank
    • , Frans Hogervorst
    • , Denise Jenner
    • , Flora van Leeuwen
    • , Matti Rookus
    • , Nicola Russell
    • , Marjanka Schmidt
    • , Sandra van den Belt-Dusebout
    • , Carolien Kets
    • , Arjen Mensenkamp
    • , Truuske de Bock
    • , Annemieke van der Hout
    • , Marian Mourits
    • , Jan Oosterwijk
    • , Margreet Ausems
    • , Marco Koudijs
    • , Christine Clarke
    • , Deborah Marsh
    • , Rodney Scott
    • , Robert Baxter
    • , Desmond Yip
    • , Jane Carpenter
    • , Alison Davis
    • , Nirmala Pathmanathan
    • , Peter Simpson
    • , Dinny Graham
    • , Mythily Sachchithananthan
    • , Claudine Isaacs
    • , Motoki Iwasaki
    • , Agnes Jager
    • , Milena Jakimovska
    • , Anna Jakubowska
    • , Paul A. James
    • , Ramunas Janavicius
    • , Rachel C. Jankowitz
    • , Esther M. John
    • , Nichola Johnson
    • , Michael E. Jones
    • , Arja Jukkola-Vuorinen
    • , Audrey Jung
    • , Rudolf Kaaks
    • , Daehee Kang
    • , Pooja Middha Kapoor
    • , Beth Y. Karlan
    • , Renske Keeman
    • , Michael J. Kerin
    • , Elza Khusnutdinova
    • , Johanna I. Kiiski
    • , Judy Kirk
    • , Cari M. Kitahara
    • , Yon-Dschun Ko
    • , Irene Konstantopoulou
    • , Veli-Matti Kosma
    • , Stella Koutros
    • , Katerina Kubelka-Sabit
    • , Ava Kwong
    • , Kyriacos Kyriacou
    • , Yael Laitman
    • , Diether Lambrechts
    • , Eunjung Lee
    • , Goska Leslie
    • , Jenny Lester
    • , Fabienne Lesueur
    • , Annika Lindblom
    • , Wing-Yee Lo
    • , Jirong Long
    • , Artitaya Lophatananon
    • , Jennifer T. Loud
    • , Jan Lubiński
    • , Robert J. MacInnis
    • , Tom Maishman
    • , Enes Makalic
    • , Arto Mannermaa
    • , Mehdi Manoochehri
    • , Siranoush Manoukian
    • , Sara Margolin
    • , Maria Elena Martinez
    • , Keitaro Matsuo
    • , Tabea Maurer
    • , Dimitrios Mavroudis
    • , Rebecca Mayes
    • , Lesley McGuffog
    • , Catriona McLean
    • , Noura Mebirouk
    • , Alfons Meindl
    • , Austin Miller
    • , Nicola Miller
    • , Marco Montagna
    • , Fernando Moreno
    • , Kenneth Muir
    • , Anna Marie Mulligan
    • , Victor M. Muñoz-Garzon
    • , Taru A. Muranen
    • , Steven A. Narod
    • , Rami Nassir
    • , Katherine L. Nathanson
    • , Susan L. Neuhausen
    • , Heli Nevanlinna
    • , Patrick Neven
    • , Finn C. Nielsen
    • , Liene Nikitina-Zake
    • , Aaron Norman
    • , Kenneth Offit
    • , Edith Olah
    • , Olufunmilayo I. Olopade
    • , Håkan Olsson
    • , Nick Orr
    • , Ana Osorio
    • , V. Shane Pankratz
    • , Janos Papp
    • , Sue K. Park
    • , Tjoung-Won Park-Simon
    • , Michael T. Parsons
    • , James Paul
    • , Inge Sokilde Pedersen
    • , Bernard Peissel
    • , Beth Peshkin
    • , Paolo Peterlongo
    • , Julian Peto
    • , Dijana Plaseska-Karanfilska
    • , Karolina Prajzendanc
    • , Ross Prentice
    • , Nadege Presneau
    • , Darya Prokofyeva
    • , Miquel Angel Pujana
    • , Katri Pylkäs
    • , Paolo Radice
    • , Susan J. Ramus
    • , Johanna Rantala
    • , Rohini Rau-Murthy
    • , Gad Rennert
    • , Harvey A. Risch
    • , Mark Robson
    • , Atocha Romero
    • , Maria Rossing
    • , Emmanouil Saloustros
    • , Estela Sánchez-Herrero
    • , Dale P. Sandler
    • , Marta Santamariña
    • , Christobel Saunders
    • , Elinor J. Sawyer
    • , Maren T. Scheuner
    • , Daniel F. Schmidt
    • , Rita K. Schmutzler
    • , Andreas Schneeweiss
    • , Minouk J. Schoemaker
    • , Ben Schöttker
    • , Peter Schürmann
    • , Christopher Scott
    • , Rodney J. Scott
    • , Leigha Senter
    • , Caroline M. Seynaeve
    • , Mitul Shah
    • , Priyanka Sharma
    • , Chen-Yang Shen
    • , Xiao-Ou Shu
    • , Christian F. Singer
    • , Thomas P. Slavin
    • , Snezhana Smichkoska
    • , Melissa C. Southey
    • , John J. Spinelli
    • , Amanda B. Spurdle
    • , Jennifer Stone
    • , Dominique Stoppa-Lyonnet
    • , Christian Sutter
    • , Anthony J. Swerdlow
    • , Rulla M. Tamimi
    • , Yen Yen Tan
    • , William J. Tapper
    • , Jack A. Taylor
    • , Manuel R. Teixeira
    • , Maria Tengström
    • , Soo Hwang Teo
    • , Mary Beth Terry
    • , Alex Teulé
    • , Mads Thomassen
    • , Darcy L. Thull
    • , Marc Tischkowitz
    • , Amanda E. Toland
    • , Rob A. E. M. Tollenaar
    • , Ian Tomlinson
    • , Diana Torres
    • , Gabriela Torres-Mejía
    • , Melissa A. Troester
    • , Thérèse Truong
    • , Nadine Tung
    • , Maria Tzardi
    • , Hans-Ulrich Ulmer
    • , Celine M. Vachon
    • , Christi J. van Asperen
    • , Lizet E. van der Kolk
    • , Elizabeth J. van Rensburg
    • , Ana Vega
    • , Alessandra Viel
    • , Joseph Vijai
    • , Maartje J. Vogel
    • , Qin Wang
    • , Barbara Wappenschmidt
    • , Clarice R. Weinberg
    • , Jeffrey N. Weitzel
    • , Camilla Wendt
    • , Hans Wildiers
    • , Robert Winqvist
    • , Alicja Wolk
    • , Anna H. Wu
    • , Drakoulis Yannoukakos
    • , Yan Zhang
    • , Wei Zheng
    • , David Hunter
    • , Paul D. P. Pharoah
    • , Jenny Chang-Claude
    • , Montserrat García-Closas
    • , Marjanka K. Schmidt
    • , Roger L. Milne
    • , Vessela N. Kristensen
    • , Juliet D. French
    • , Stacey L. Edwards
    • , Antonis C. Antoniou
    • , Georgia Chenevix-Trench
    • , Jacques Simard
    • , Douglas F. Easton
    • , Peter Kraft
    •  & Alison M. Dunning
  • Article |

    pgFARM (paired guide RNAs for alternative exon removal) is a CRISPR–Cas9-based approach to manipulate alternative splicing and identify functional roles for individual exons, including poison exons with essential and tumor-suppressor roles.

    • James D. Thomas
    • , Jacob T. Polaski
    • , Qing Feng
    • , Emma J. De Neef
    • , Emma R. Hoppe
    • , Maria V. McSharry
    • , Joseph Pangallo
    • , Austin M. Gabel
    • , Andrea E. Belleville
    • , Jacqueline Watson
    • , Naomi T. Nkinsi
    • , Alice H. Berger
    •  & Robert K. Bradley
  • Article |

    Whole-genome sequencing and phylogenetic analysis of nearly 400 esophageal adenocarcinoma samples suggest a model of rapid subclone spreading from the primary tumor to multiple metastatic sites, which the authors term ‘clonal diaspora’.

    • Ayesha Noorani
    • , Xiaodun Li
    • , Martin Goddard
    • , Jason Crawte
    • , Ludmil B. Alexandrov
    • , Maria Secrier
    • , Matthew D. Eldridge
    • , Lawrence Bower
    • , Jamie Weaver
    • , Pierre Lao-Sirieix
    • , Inigo Martincorena
    • , Irene Debiram-Beecham
    • , Nicola Grehan
    • , Shona MacRae
    • , Shalini Malhotra
    • , Ahmad Miremadi
    • , Tabitha Thomas
    • , Sarah Galbraith
    • , Lorraine Petersen
    • , Stephen D. Preston
    • , David Gilligan
    • , Andrew Hindmarsh
    • , Richard H. Hardwick
    • , Michael R. Stratton
    • , David C. Wedge
    •  & Rebecca C. Fitzgerald
  • Article
    | Open Access

    Analysis of a near-chromosomal genome assembly and transcriptome profiling of the Indian cobra identifies genes expressed in the venom glands. These data should help develop a new antivenom.

    • Kushal Suryamohan
    • , Sajesh P. Krishnankutty
    • , Joseph Guillory
    • , Matthew Jevit
    • , Markus S. Schröder
    • , Meng Wu
    • , Boney Kuriakose
    • , Oommen K. Mathew
    • , Rajadurai C. Perumal
    • , Ivan Koludarov
    • , Leonard D. Goldstein
    • , Kate Senger
    • , Mandumpala Davis Dixon
    • , Dinesh Velayutham
    • , Derek Vargas
    • , Subhra Chaudhuri
    • , Megha Muraleedharan
    • , Ridhi Goel
    • , Ying-Jiun J. Chen
    • , Aakrosh Ratan
    • , Peter Liu
    • , Brendan Faherty
    • , Guillermo de la Rosa
    • , Hiroki Shibata
    • , Miriam Baca
    • , Meredith Sagolla
    • , James Ziai
    • , Gus A. Wright
    • , Domagoj Vucic
    • , Sangeetha Mohan
    • , Aju Antony
    • , Jeremy Stinson
    • , Donald S. Kirkpatrick
    • , Rami N. Hannoush
    • , Steffen Durinck
    • , Zora Modrusan
    • , Eric W. Stawiski
    • , Kristen Wiley
    • , Terje Raudsepp
    • , R. Manjunatha Kini
    • , Arun Zachariah
    •  & Somasekar Seshagiri
  • Article |

    ARID1A and other SWI/SNF components are critical for response to estrogen-receptor antagonists in breast cancer. SWI/SNF-specific gene knockouts lead to drug resistance and ARID1A mutations are more frequent in resistant tumors from patients.

    • Sankari Nagarajan
    • , Shalini V. Rao
    • , Joseph Sutton
    • , Danya Cheeseman
    • , Shanade Dunn
    • , Evangelia K. Papachristou
    • , Jose-Enrique Gonzalez Prada
    • , Dominique-Laurent Couturier
    • , Sanjeev Kumar
    • , Kamal Kishore
    • , Chandra Sekhar Reddy Chilamakuri
    • , Silvia-Elena Glont
    • , Emily Archer Goode
    • , Cara Brodie
    • , Naomi Guppy
    • , Rachael Natrajan
    • , Alejandra Bruna
    • , Carlos Caldas
    • , Alasdair Russell
    • , Rasmus Siersbæk
    • , Kosuke Yusa
    • , Igor Chernukhin
    •  & Jason S. Carroll
  • Article |

    Resequencing and genome-wide association analysis of 683 common bean accessions across different latitudes identifies 505 loci associated with yield components, of which seed size, flowering and harvest maturity traits are stable across environments.

    • Jing Wu
    • , Lanfen Wang
    • , Junjie Fu
    • , Jibao Chen
    • , Shuhong Wei
    • , Shilong Zhang
    • , Jie Zhang
    • , Yongsheng Tang
    • , Mingli Chen
    • , Jifeng Zhu
    • , Lei Lei
    • , Qinghe Geng
    • , Chunliang Liu
    • , Lei Wu
    • , Xiaoming Li
    • , Xiaoli Wang
    • , Qiang Wang
    • , Zhaoli Wang
    • , Shilai Xing
    • , Haikuan Zhang
    • , Matthew W. Blair
    •  & Shumin Wang
  • Article |

    Genome-wide maps of chromatin dynamics during mouse gastrulation highlight a unique bivalent signature at developmental genes in E6.5 epiblast cells. KMT2B is essential for bivalent H3K4me3 at E6.5.

    • Yunlong Xiang
    • , Yu Zhang
    • , Qianhua Xu
    • , Chen Zhou
    • , Bofeng Liu
    • , Zhenhai Du
    • , Ke Zhang
    • , Bingjie Zhang
    • , Xiaoxiao Wang
    • , Srimonta Gayen
    • , Ling Liu
    • , Yao Wang
    • , Yuanyuan Li
    • , Qiujun Wang
    • , Sundeep Kalantry
    • , Lei Li
    •  & Wei Xie
  • Article |

    Oncogenic MYC expression involves super-enhancer-mediated tethering of MYC alleles to nuclear pores, thus increasing messenger RNA export. This is regulated by AHCTF1 and β-catenin.

    • Barbara A. Scholz
    • , Noriyuki Sumida
    • , Carolina Diettrich Mallet de Lima
    • , Ilyas Chachoua
    • , Mirco Martino
    • , Ilias Tzelepis
    • , Andrej Nikoshkov
    • , Honglei Zhao
    • , Rashid Mehmood
    • , Emmanouil G. Sifakis
    • , Deeksha Bhartiya
    • , Anita Göndör
    •  & Rolf Ohlsson
  • Article |

    High levels of histone acetylation at rhabdomyosarcoma SEs, including SOX8, are detrimental to transcription via exclusion of RNA Pol II, but not BRD4, from phase condensates.

    • Berkley E. Gryder
    • , Silvia Pomella
    • , Carly Sayers
    • , Xiaoli S. Wu
    • , Young Song
    • , Anna M. Chiarella
    • , Sukriti Bagchi
    • , Hsien-Chao Chou
    • , Ranu S. Sinniah
    • , Ashley Walton
    • , Xinyu Wen
    • , Rossella Rota
    • , Nathaniel A. Hathaway
    • , Keji Zhao
    • , Jiji Chen
    • , Christopher R. Vakoc
    • , Jack F. Shern
    • , Benjamin Z. Stanton
    •  & Javed Khan
  • Article |

    Transcriptome and functional studies in human iPSC-derived neurons suggest that the phenotypic effects of NRXN1 deletions can occur through reduction in wild-type NRXN1α isoform levels and expression of mutant NRXN1α isoforms.

    • Erin Flaherty
    • , Shijia Zhu
    • , Natalie Barretto
    • , Esther Cheng
    • , P. J. Michael Deans
    • , Michael B. Fernando
    • , Nadine Schrode
    • , Nancy Francoeur
    • , Alesia Antoine
    • , Khaled Alganem
    • , Madeline Halpern
    • , Gintaras Deikus
    • , Hardik Shah
    • , Megan Fitzgerald
    • , Ian Ladran
    • , Peter Gochman
    • , Judith Rapoport
    • , Nadejda M. Tsankova
    • , Robert McCullumsmith
    • , Gabriel E. Hoffman
    • , Robert Sebra
    • , Gang Fang
    •  & Kristen J. Brennand
  • Article |

    A single-cell transcriptomic atlas from embryonal pons and forebrain provides insights into the developmental origins of pediatric brain tumors. The study identifies impaired differentiation of specific neural progenitors as a common mechanism underlying these cancers.

    • Selin Jessa
    • , Alexis Blanchet-Cohen
    • , Brian Krug
    • , Maria Vladoiu
    • , Marie Coutelier
    • , Damien Faury
    • , Brice Poreau
    • , Nicolas De Jay
    • , Steven Hébert
    • , Jean Monlong
    • , W. Todd Farmer
    • , Laura K. Donovan
    • , Yixing Hu
    • , Melissa K. McConechy
    • , Florence M. G. Cavalli
    • , Leonie G. Mikael
    • , Benjamin Ellezam
    • , Maxime Richer
    • , Andréa Allaire
    • , Alexander G. Weil
    • , Jeffrey Atkinson
    • , Jean-Pierre Farmer
    • , Roy W. R. Dudley
    • , Valerie Larouche
    • , Louis Crevier
    • , Steffen Albrecht
    • , Mariella G. Filbin
    • , Hervé Sartelet
    • , Pierre-Eric Lutz
    • , Corina Nagy
    • , Gustavo Turecki
    • , Santiago Costantino
    • , Peter B. Dirks
    • , Keith K. Murai
    • , Guillaume Bourque
    • , Jiannis Ragoussis
    • , Livia Garzia
    • , Michael D. Taylor
    • , Nada Jabado
    •  & Claudia L. Kleinman
  • Article |

    Analysis of whole-genome sequences from more than 3,500 metastatic tumors identifies mutational signatures associated with different chemotherapies and provides estimates of the relative contribution of different treatments to tumor mutational burden.

    • Oriol Pich
    • , Ferran Muiños
    • , Martijn Paul Lolkema
    • , Neeltje Steeghs
    • , Abel Gonzalez-Perez
    •  & Nuria Lopez-Bigas
  • Article |

    Genome-wide meta-analysis with individuals of East Asian or European ancestry identifies 176 loci associated with schizophrenia. Despite consistent genetic effects across populations, polygenic risk models trained in one population have reduced performance in the other population.

    • Max Lam
    • , Chia-Yen Chen
    • , Zhiqiang Li
    • , Alicia R. Martin
    • , Julien Bryois
    • , Xixian Ma
    • , Helena Gaspar
    • , Masashi Ikeda
    • , Beben Benyamin
    • , Brielin C. Brown
    • , Ruize Liu
    • , Wei Zhou
    • , Lili Guan
    • , Yoichiro Kamatani
    • , Sung-Wan Kim
    • , Michiaki Kubo
    • , Agung A. A. A. Kusumawardhani
    • , Chih-Min Liu
    • , Hong Ma
    • , Sathish Periyasamy
    • , Atsushi Takahashi
    • , Zhida Xu
    • , Hao Yu
    • , Feng Zhu
    • , Wei J. Chen
    • , Stephen Faraone
    • , Stephen J. Glatt
    • , Lin He
    • , Steven E. Hyman
    • , Hai-Gwo Hwu
    • , Steven A. McCarroll
    • , Benjamin M. Neale
    • , Pamela Sklar
    • , Dieter B. Wildenauer
    • , Xin Yu
    • , Dai Zhang
    • , Bryan J. Mowry
    • , Jimmy Lee
    • , Peter Holmans
    • , Shuhua Xu
    • , Patrick F. Sullivan
    • , Stephan Ripke
    • , Michael C. O’Donovan
    • , Mark J. Daly
    • , Shengying Qin
    • , Pak Sham
    • , Nakao Iwata
    • , Kyung S. Hong
    • , Sibylle G. Schwab
    • , Weihua Yue
    • , Ming Tsuang
    • , Jianjun Liu
    • , Xiancang Ma
    • , René S. Kahn
    • , Yongyong Shi
    •  & Hailiang Huang
  • Article |

    Short- and long-term cultures of human stem-cell-derived neurons reveal that a pattern of restricted selection of clustered protocadherin isoforms, pre-established in pluripotent cells, distinguishes immature from mature neurons.

    • Angels Almenar-Queralt
    • , Daria Merkurjev
    • , Hong Sook Kim
    • , Michael Navarro
    • , Qi Ma
    • , Rodrigo S. Chaves
    • , Catarina Allegue
    • , Shawn P. Driscoll
    • , Andrew G. Chen
    • , Bridget Kohlnhofer
    • , Lauren K. Fong
    • , Grace Woodruff
    • , Carlos Mackintosh
    • , Dasa Bohaciakova
    • , Marian Hruska-Plochan
    • , Takahiro Tadokoro
    • , Jessica E. Young
    • , Nady El Hajj
    • , Marcus Dittrich
    • , Martin Marsala
    • , Lawrence S. B. Goldstein
    •  & Ivan Garcia-Bassets
  • Article
    | Open Access

    An improved watermelon reference genome and whole-genome resequencing of 414 cultivated and wild accessions provide insights into fruit quality traits and dessert watermelon evolution.

    • Shaogui Guo
    • , Shengjie Zhao
    • , Honghe Sun
    • , Xin Wang
    • , Shan Wu
    • , Tao Lin
    • , Yi Ren
    • , Lei Gao
    • , Yun Deng
    • , Jie Zhang
    • , Xuqiang Lu
    • , Haiying Zhang
    • , Jianli Shang
    • , Guoyi Gong
    • , Changlong Wen
    • , Nan He
    • , Shouwei Tian
    • , Maoying Li
    • , Junpu Liu
    • , Yanping Wang
    • , Yingchun Zhu
    • , Robert Jarret
    • , Amnon Levi
    • , Xingping Zhang
    • , Sanwen Huang
    • , Zhangjun Fei
    • , Wenge Liu
    •  & Yong Xu
  • Article |

    The rare loss-of-function allele p.Arg138* in SLC30A8 (encoding ZnT8) mediates protection against type 2 diabetes (T2D) through promoting better insulin secretion and enhanced glucose responsiveness, suggesting ZnT8 as a target for T2D treatment.

    • Om Prakash Dwivedi
    • , Mikko Lehtovirta
    • , Benoit Hastoy
    • , Vikash Chandra
    • , Nicole A. J. Krentz
    • , Sandra Kleiner
    • , Deepak Jain
    • , Ann-Marie Richard
    • , Fernando Abaitua
    • , Nicola L. Beer
    • , Antje Grotz
    • , Rashmi B. Prasad
    • , Ola Hansson
    • , Emma Ahlqvist
    • , Ulrika Krus
    • , Isabella Artner
    • , Anu Suoranta
    • , Daniel Gomez
    • , Aris Baras
    • , Benoite Champon
    • , Anthony J. Payne
    • , Daniela Moralli
    • , Soren K. Thomsen
    • , Philipp Kramer
    • , Ioannis Spiliotis
    • , Reshma Ramracheya
    • , Pauline Chabosseau
    • , Andria Theodoulou
    • , Rebecca Cheung
    • , Martijn van de Bunt
    • , Jason Flannick
    • , Maddalena Trombetta
    • , Enzo Bonora
    • , Claes B. Wolheim
    • , Leena Sarelin
    • , Riccardo C. Bonadonna
    • , Patrik Rorsman
    • , Benjamin Davies
    • , Julia Brosnan
    • , Mark I. McCarthy
    • , Timo Otonkoski
    • , Jens O. Lagerstedt
    • , Guy A. Rutter
    • , Jesper Gromada
    • , Anna L. Gloyn
    • , Tiinamaija Tuomi
    •  & Leif Groop
  • Article |

    Cytokine-induced regulatory changes in human pancreatic islets illustrate the β-cell chromatin dynamics in response to a proinflammatory environment and implicate a role for islet enhancers in type 1 diabetes.

    • Mireia Ramos-Rodríguez
    • , Helena Raurell-Vila
    • , Maikel L. Colli
    • , Maria Inês Alvelos
    • , Marc Subirana-Granés
    • , Jonàs Juan-Mateu
    • , Richard Norris
    • , Jean-Valery Turatsinze
    • , Ernesto S. Nakayasu
    • , Bobbie-Jo M. Webb-Robertson
    • , Jamie R. J. Inshaw
    • , Piero Marchetti
    • , Lorenzo Piemonti
    • , Manel Esteller
    • , John A. Todd
    • , Thomas O. Metz
    • , Décio L. Eizirik
    •  & Lorenzo Pasquali
  • Article |

    A comprehensive map of genomic variation in melon derived from resequencing of 1,175 accessions sheds light on the population structure and domestication history of melon and agronomic traits for melon breeding.

    • Guangwei Zhao
    • , Qun Lian
    • , Zhonghua Zhang
    • , Qiushi Fu
    • , Yuhua He
    • , Shuangwu Ma
    • , Valentino Ruggieri
    • , Antonio J. Monforte
    • , Pingyong Wang
    • , Irene Julca
    • , Huaisong Wang
    • , Junpu Liu
    • , Yong Xu
    • , Runze Wang
    • , Jiabing Ji
    • , Zhihong Xu
    • , Weihu Kong
    • , Yang Zhong
    • , Jianli Shang
    • , Lara Pereira
    • , Jason Argyris
    • , Jian Zhang
    • , Carlos Mayobre
    • , Marta Pujol
    • , Elad Oren
    • , Diandian Ou
    • , Jiming Wang
    • , Dexi Sun
    • , Shengjie Zhao
    • , Yingchun Zhu
    • , Na Li
    • , Nurit Katzir
    • , Amit Gur
    • , Catherine Dogimont
    • , Hanno Schaefer
    • , Wei Fan
    • , Abdelhafid Bendahmane
    • , Zhangjun Fei
    • , Michel Pitrat
    • , Toni Gabaldón
    • , Tao Lin
    • , Jordi Garcia-Mas
    • , Yongyang Xu
    •  & Sanwen Huang
  • Article |

    Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

    • Claudia L. Satizabal
    • , Hieab H. H. Adams
    • , Derrek P. Hibar
    • , Charles C. White
    • , Maria J. Knol
    • , Jason L. Stein
    • , Markus Scholz
    • , Muralidharan Sargurupremraj
    • , Neda Jahanshad
    • , Gennady V. Roshchupkin
    • , Albert V. Smith
    • , Joshua C. Bis
    • , Xueqiu Jian
    • , Michelle Luciano
    • , Edith Hofer
    • , Alexander Teumer
    • , Sven J. van der Lee
    • , Jingyun Yang
    • , Lisa R. Yanek
    • , Tom V. Lee
    • , Shuo Li
    • , Yanhui Hu
    • , Jia Yu Koh
    • , John D. Eicher
    • , Sylvane Desrivières
    • , Alejandro Arias-Vasquez
    • , Ganesh Chauhan
    • , Lavinia Athanasiu
    • , Miguel E. Rentería
    • , Sungeun Kim
    • , David Hoehn
    • , Nicola J. Armstrong
    • , Qiang Chen
    • , Avram J. Holmes
    • , Anouk den Braber
    • , Iwona Kloszewska
    • , Micael Andersson
    • , Thomas Espeseth
    • , Oliver Grimm
    • , Lucija Abramovic
    • , Saud Alhusaini
    • , Yuri Milaneschi
    • , Martina Papmeyer
    • , Tomas Axelsson
    • , Stefan Ehrlich
    • , Roberto Roiz-Santiañez
    • , Bernd Kraemer
    • , Asta K. Håberg
    • , Hannah J. Jones
    • , G. Bruce Pike
    • , Dan J. Stein
    • , Allison Stevens
    • , Janita Bralten
    • , Meike W. Vernooij
    • , Tamara B. Harris
    • , Irina Filippi
    • , A. Veronica Witte
    • , Tulio Guadalupe
    • , Katharina Wittfeld
    • , Thomas H. Mosley
    • , James T. Becker
    • , Nhat Trung Doan
    • , Saskia P. Hagenaars
    • , Yasaman Saba
    • , Gabriel Cuellar-Partida
    • , Najaf Amin
    • , Saima Hilal
    • , Kwangsik Nho
    • , Nazanin Mirza-Schreiber
    • , Konstantinos Arfanakis
    • , Diane M. Becker
    • , David Ames
    • , Aaron L. Goldman
    • , Phil H. Lee
    • , Dorret I. Boomsma
    • , Simon Lovestone
    • , Sudheer Giddaluru
    • , Stephanie Le Hellard
    • , Manuel Mattheisen
    • , Marc M. Bohlken
    • , Dalia Kasperaviciute
    • , Lianne Schmaal
    • , Stephen M. Lawrie
    • , Ingrid Agartz
    • , Esther Walton
    • , Diana Tordesillas-Gutierrez
    • , Gareth E. Davies
    • , Jean Shin
    • , Jonathan C. Ipser
    • , Louis N. Vinke
    • , Martine Hoogman
    • , Tianye Jia
    • , Ralph Burkhardt
    • , Marieke Klein
    • , Fabrice Crivello
    • , Deborah Janowitz
    • , Owen Carmichael
    • , Unn K. Haukvik
    • , Benjamin S. Aribisala
    • , Helena Schmidt
    • , Lachlan T. Strike
    • , Ching-Yu Cheng
    • , Shannon L. Risacher
    • , Benno Pütz
    • , Debra A. Fleischman
    • , Amelia A. Assareh
    • , Venkata S. Mattay
    • , Randy L. Buckner
    • , Patrizia Mecocci
    • , Anders M. Dale
    • , Sven Cichon
    • , Marco P. Boks
    • , Mar Matarin
    • , Brenda W. J. H. Penninx
    • , Vince D. Calhoun
    • , M. Mallar Chakravarty
    • , Andre F. Marquand
    • , Christine Macare
    • , Shahrzad Kharabian Masouleh
    • , Jaap Oosterlaan
    • , Philippe Amouyel
    • , Katrin Hegenscheid
    • , Jerome I. Rotter
    • , Andrew J. Schork
    • , David C. M. Liewald
    • , Greig I. de Zubicaray
    • , Tien Yin Wong
    • , Li Shen
    • , Philipp G. Sämann
    • , Henry Brodaty
    • , Joshua L. Roffman
    • , Eco J. C. de Geus
    • , Magda Tsolaki
    • , Susanne Erk
    • , Kristel R. van Eijk
    • , Gianpiero L. Cavalleri
    • , Nic J. A. van der Wee
    • , Andrew M. McIntosh
    • , Randy L. Gollub
    • , Kazima B. Bulayeva
    • , Manon Bernard
    • , Jennifer S. Richards
    • , Jayandra J. Himali
    • , Markus Loeffler
    • , Nanda Rommelse
    • , Wolfgang Hoffmann
    • , Lars T. Westlye
    • , Maria C. Valdés Hernández
    • , Narelle K. Hansell
    • , Theo G. M. van Erp
    • , Christiane Wolf
    • , John B. J. Kwok
    • , Bruno Vellas
    • , Andreas Heinz
    • , Loes M. Olde Loohuis
    • , Norman Delanty
    • , Beng-Choon Ho
    • , Christopher R. K. Ching
    • , Elena Shumskaya
    • , Baljeet Singh
    • , Albert Hofman
    • , Dennis van der Meer
    • , Georg Homuth
    • , Bruce M. Psaty
    • , Mark E. Bastin
    • , Grant W. Montgomery
    • , Tatiana M. Foroud
    • , Simone Reppermund
    • , Jouke-Jan Hottenga
    • , Andrew Simmons
    • , Andreas Meyer-Lindenberg
    • , Wiepke Cahn
    • , Christopher D. Whelan
    • , Marjolein M. J. van Donkelaar
    • , Qiong Yang
    • , Norbert Hosten
    • , Robert C Green
    • , Anbupalam Thalamuthu
    • , Sebastian Mohnke
    • , Hilleke E. Hulshoff Pol
    • , Honghuang Lin
    • , Clifford R. Jack Jr
    • , Peter R. Schofield
    • , Thomas W. Mühleisen
    • , Pauline Maillard
    • , Steven G. Potkin
    • , Wei Wen
    • , Evan Fletcher
    • , Arthur W. Toga
    • , Oliver Gruber
    • , Matthew Huentelman
    • , George Davey Smith
    • , Lenore J. Launer
    • , Lars Nyberg
    • , Erik G. Jönsson
    • , Benedicto Crespo-Facorro
    • , Nastassja Koen
    • , Douglas N. Greve
    • , André G. Uitterlinden
    • , Daniel R. Weinberger
    • , Vidar M. Steen
    • , Iryna O. Fedko
    • , Nynke A. Groenewold
    • , Wiro J. Niessen
    • , Roberto Toro
    • , Christophe Tzourio
    • , William T. Longstreth Jr
    • , M. Kamran Ikram
    • , Jordan W. Smoller
    • , Marie-Jose van Tol
    • , Jessika E. Sussmann
    • , Tomas Paus
    • , Hervé Lemaître
    • , Matthias L. Schroeter
    • , Bernard Mazoyer
    • , Ole A. Andreassen
    • , Florian Holsboer
    • , Chantal Depondt
    • , Dick J. Veltman
    • , Jessica A. Turner
    • , Zdenka Pausova
    • , Gunter Schumann
    • , Daan van Rooij
    • , Srdjan Djurovic
    • , Ian J. Deary
    • , Katie L. McMahon
    • , Bertram Müller-Myhsok
    • , Rachel M. Brouwer
    • , Hilkka Soininen
    • , Massimo Pandolfo
    • , Thomas H. Wassink
    • , Joshua W. Cheung
    • , Thomas Wolfers
    • , Jean-Luc Martinot
    • , Marcel P. Zwiers
    • , Matthias Nauck
    • , Ingrid Melle
    • , Nicholas G. Martin
    • , Ryota Kanai
    • , Eric Westman
    • , René S. Kahn
    • , Sanjay M. Sisodiya
    • , Tonya White
    • , Arvin Saremi
    • , Hans van Bokhoven
    • , Han G. Brunner
    • , Henry Völzke
    • , Margaret J. Wright
    • , Dennis van ‘t Ent
    • , Markus M. Nöthen
    • , Roel A. Ophoff
    • , Jan K. Buitelaar
    • , Guillén Fernández
    • , Perminder S. Sachdev
    • , Marcella Rietschel
    • , Neeltje E. M. van Haren
    • , Simon E. Fisher
    • , Alexa S. Beiser
    • , Clyde Francks
    • , Andrew J. Saykin
    • , Karen A. Mather
    • , Nina Romanczuk-Seiferth
    • , Catharina A. Hartman
    • , Anita L. DeStefano
    • , Dirk J. Heslenfeld
    • , Michael W. Weiner
    • , Henrik Walter
    • , Pieter J. Hoekstra
    • , Paul A. Nyquist
    • , Barbara Franke
    • , David A. Bennett
    • , Hans J. Grabe
    • , Andrew D. Johnson
    • , Christopher Chen
    • , Cornelia M. van Duijn
    • , Oscar L. Lopez
    • , Myriam Fornage
    • , Joanna M. Wardlaw
    • , Reinhold Schmidt
    • , Charles DeCarli
    • , Philip L. De Jager
    • , Arno Villringer
    • , Stéphanie Debette
    • , Vilmundur Gudnason
    • , Sarah E. Medland
    • , Joshua M. Shulman
    • , Paul M. Thompson
    • , Sudha Seshadri
    •  & M. Arfan Ikram
  • Article |

    A trans-ancestry genome-wide association study of serum urate levels identifies 183 loci influencing this trait. Enrichment analyses, fine-mapping and colocalization with gene expression in 47 tissues implicate the kidney and liver as key target organs and prioritize potential causal genes.

    • Adrienne Tin
    • , Jonathan Marten
    • , Victoria L. Halperin Kuhns
    • , Yong Li
    • , Matthias Wuttke
    • , Holger Kirsten
    • , Karsten B. Sieber
    • , Chengxiang Qiu
    • , Mathias Gorski
    • , Zhi Yu
    • , Ayush Giri
    • , Gardar Sveinbjornsson
    • , Man Li
    • , Audrey Y. Chu
    • , Anselm Hoppmann
    • , Luke J. O’Connor
    • , Bram Prins
    • , Teresa Nutile
    • , Damia Noce
    • , Masato Akiyama
    • , Massimiliano Cocca
    • , Sahar Ghasemi
    • , Peter J. van der Most
    • , Katrin Horn
    • , Yizhe Xu
    • , Christian Fuchsberger
    • , Sanaz Sedaghat
    • , Saima Afaq
    • , Najaf Amin
    • , Johan Ärnlöv
    • , Stephan J. L. Bakker
    • , Nisha Bansal
    • , Daniela Baptista
    • , Sven Bergmann
    • , Mary L. Biggs
    • , Ginevra Biino
    • , Eric Boerwinkle
    • , Erwin P. Bottinger
    • , Thibaud S. Boutin
    • , Marco Brumat
    • , Ralph Burkhardt
    • , Eric Campana
    • , Archie Campbell
    • , Harry Campbell
    • , Robert J. Carroll
    • , Eulalia Catamo
    • , John C. Chambers
    • , Marina Ciullo
    • , Maria Pina Concas
    • , Josef Coresh
    • , Tanguy Corre
    • , Daniele Cusi
    • , Sala Cinzia Felicita
    • , Martin H. de Borst
    • , Alessandro De Grandi
    • , Renée de Mutsert
    • , Aiko P. J. de Vries
    • , Graciela Delgado
    • , Ayşe Demirkan
    • , Olivier Devuyst
    • , Katalin Dittrich
    • , Kai-Uwe Eckardt
    • , Georg Ehret
    • , Karlhans Endlich
    • , Michele K. Evans
    • , Ron T. Gansevoort
    • , Paolo Gasparini
    • , Vilmantas Giedraitis
    • , Christian Gieger
    • , Giorgia Girotto
    • , Martin Gögele
    • , Scott D. Gordon
    • , Daniel F. Gudbjartsson
    • , Vilmundur Gudnason
    • , Toomas Haller
    • , Pavel Hamet
    • , Tamara B. Harris
    • , Caroline Hayward
    • , Andrew A. Hicks
    • , Edith Hofer
    • , Hilma Holm
    • , Wei Huang
    • , Nina Hutri-Kähönen
    • , Shih-Jen Hwang
    • , M. Arfan Ikram
    • , Raychel M. Lewis
    • , Erik Ingelsson
    • , Johanna Jakobsdottir
    • , Ingileif Jonsdottir
    • , Helgi Jonsson
    • , Peter K. Joshi
    • , Navya Shilpa Josyula
    • , Bettina Jung
    • , Mika Kähönen
    • , Yoichiro Kamatani
    • , Masahiro Kanai
    • , Shona M. Kerr
    • , Wieland Kiess
    • , Marcus E. Kleber
    • , Wolfgang Koenig
    • , Jaspal S. Kooner
    • , Antje Körner
    • , Peter Kovacs
    • , Bernhard K. Krämer
    • , Florian Kronenberg
    • , Michiaki Kubo
    • , Brigitte Kühnel
    • , Martina La Bianca
    • , Leslie A. Lange
    • , Benjamin Lehne
    • , Terho Lehtimäki
    • , Jun Liu
    • , Markus Loeffler
    • , Ruth J. F. Loos
    • , Leo-Pekka Lyytikäinen
    • , Reedik Magi
    • , Anubha Mahajan
    • , Nicholas G. Martin
    • , Winfried März
    • , Deborah Mascalzoni
    • , Koichi Matsuda
    • , Christa Meisinger
    • , Thomas Meitinger
    • , Andres Metspalu
    • , Yuri Milaneschi
    • , Christopher J. O’Donnell
    • , Otis D. Wilson
    • , J. Michael Gaziano
    • , Pashupati P. Mishra
    • , Karen L. Mohlke
    • , Nina Mononen
    • , Grant W. Montgomery
    • , Dennis O. Mook-Kanamori
    • , Martina Müller-Nurasyid
    • , Girish N. Nadkarni
    • , Mike A. Nalls
    • , Matthias Nauck
    • , Kjell Nikus
    • , Boting Ning
    • , Ilja M. Nolte
    • , Raymond Noordam
    • , Jeffrey R. O’Connell
    • , Isleifur Olafsson
    • , Sandosh Padmanabhan
    • , Brenda W. J. H. Penninx
    • , Thomas Perls
    • , Annette Peters
    • , Mario Pirastu
    • , Nicola Pirastu
    • , Giorgio Pistis
    • , Ozren Polasek
    • , Belen Ponte
    • , David J. Porteous
    • , Tanja Poulain
    • , Michael H. Preuss
    • , Ton J. Rabelink
    • , Laura M. Raffield
    • , Olli T. Raitakari
    • , Rainer Rettig
    • , Myriam Rheinberger
    • , Kenneth M. Rice
    • , Federica Rizzi
    • , Antonietta Robino
    • , Igor Rudan
    • , Alena Krajcoviechova
    • , Renata Cifkova
    • , Rico Rueedi
    • , Daniela Ruggiero
    • , Kathleen A. Ryan
    • , Yasaman Saba
    • , Erika Salvi
    • , Helena Schmidt
    • , Reinhold Schmidt
    • , Christian M. Shaffer
    • , Albert V. Smith
    • , Blair H. Smith
    • , Cassandra N. Spracklen
    • , Konstantin Strauch
    • , Michael Stumvoll
    • , Patrick Sulem
    • , Salman M. Tajuddin
    • , Andrej Teren
    • , Joachim Thiery
    • , Chris H. L. Thio
    • , Unnur Thorsteinsdottir
    • , Daniela Toniolo
    • , Anke Tönjes
    • , Johanne Tremblay
    • , André G. Uitterlinden
    • , Simona Vaccargiu
    • , Pim van der Harst
    • , Cornelia M. van Duijn
    • , Niek Verweij
    • , Uwe Völker
    • , Peter Vollenweider
    • , Gerard Waeber
    • , Melanie Waldenberger
    • , John B. Whitfield
    • , Sarah H. Wild
    • , James F. Wilson
    • , Qiong Yang
    • , Weihua Zhang
    • , Alan B. Zonderman
    • , Murielle Bochud
    • , James G. Wilson
    • , Sarah A. Pendergrass
    • , Kevin Ho
    • , Afshin Parsa
    • , Peter P. Pramstaller
    • , Bruce M. Psaty
    • , Carsten A. Böger
    • , Harold Snieder
    • , Adam S. Butterworth
    • , Yukinori Okada
    • , Todd L. Edwards
    • , Kari Stefansson
    • , Katalin Susztak
    • , Markus Scholz
    • , Iris M. Heid
    • , Adriana M. Hung
    • , Alexander Teumer
    • , Cristian Pattaro
    • , Owen M. Woodward
    • , Veronique Vitart
    •  & Anna Köttgen