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  • Article |

    Genome-wide detection of inversions in great ape genomes by using long-read sequencing and single-cell DNA template strand sequencing (Strand-seq) expands the number of known ape inversions and identifies several regions that have recurrently toggled between a direct and an inverted state during primate evolution.

    • David Porubsky
    • , Ashley D. Sanders
    • , Wolfram Höps
    • , PingHsun Hsieh
    • , Arvis Sulovari
    • , Ruiyang Li
    • , Ludovica Mercuri
    • , Melanie Sorensen
    • , Shwetha C. Murali
    • , David Gordon
    • , Stuart Cantsilieris
    • , Alex A. Pollen
    • , Mario Ventura
    • , Francesca Antonacci
    • , Tobias Marschall
    • , Jan O. Korbel
    •  & Evan E. Eichler

  • Article |

    Genome-wide association meta-analyses among 1.4 million individuals identify 318 new risk loci for type 2 diabetes and provide insight into the contribution of these risk variants to diabetes-related vascular outcomes.

    • Marijana Vujkovic
    • , Jacob M. Keaton
    • , Julie A. Lynch
    • , Donald R. Miller
    • , Jin Zhou
    • , Catherine Tcheandjieu
    • , Jennifer E. Huffman
    • , Themistocles L. Assimes
    • , Kimberly Lorenz
    • , Xiang Zhu
    • , Austin T. Hilliard
    • , Renae L. Judy
    • , Jie Huang
    • , Kyung M. Lee
    • , Derek Klarin
    • , Saiju Pyarajan
    • , John Danesh
    • , Olle Melander
    • , Asif Rasheed
    • , Nadeem H. Mallick
    • , Shahid Hameed
    • , Irshad H. Qureshi
    • , Muhammad Naeem Afzal
    • , Uzma Malik
    • , Anjum Jalal
    • , Shahid Abbas
    • , Xin Sheng
    • , Long Gao
    • , Klaus H. Kaestner
    • , Katalin Susztak
    • , Yan V. Sun
    • , Scott L. DuVall
    • , Kelly Cho
    • , Jennifer S. Lee
    • , J. Michael Gaziano
    • , Lawrence S. Phillips
    • , James B. Meigs
    • , Peter D. Reaven
    • , Peter W. Wilson
    • , Todd L. Edwards
    • , Daniel J. Rader
    • , Scott M. Damrauer
    • , Christopher J. O’Donnell
    • , Philip S. Tsao
    • , Mark A. Atkinson
    • , Al C. Powers
    • , Ali Naji
    • , Klaus H. Kaestner
    • , Goncalo R. Abecasis
    • , Aris Baras
    • , Michael N. Cantor
    • , Giovanni Coppola
    • , Aris N. Economides
    • , Luca A. Lotta
    • , John D. Overton
    • , Jeffrey G. Reid
    • , Alan R. Shuldiner
    • , Christina Beechert
    • , Caitlin Forsythe
    • , Erin D. Fuller
    • , Zhenhua Gu
    • , Michael Lattari
    • , Alexander E. Lopez
    • , Thomas D. Schleicher
    • , Maria Sotiropoulos Padilla
    • , Karina Toledo
    • , Louis Widom
    • , Sarah E. Wolf
    • , Manasi Pradhan
    • , Kia Manoochehri
    • , Ricardo H. Ulloa
    • , Xiaodong Bai
    • , Suganthi Balasubramanian
    • , Leland Barnard
    • , Andrew L. Blumenfeld
    • , Gisu Eom
    • , Lukas Habegger
    • , Alicia Hawes
    • , Shareef Khalid
    • , Evan K. Maxwell
    • , William J. Salerno
    • , Jeffrey C. Staples
    • , Ashish Yadav
    • , Marcus B. Jones
    • , Lyndon J. Mitnaul
    • , Samuel M. Aguayo
    • , Sunil K. Ahuja
    • , Zuhair K. Ballas
    • , Sujata Bhushan
    • , Edward J. Boyko
    • , David M. Cohen
    • , John Concato
    • , Joseph I. Constans
    • , Louis J. Dellitalia
    • , Joseph M. Fayad
    • , Ronald S. Fernando
    • , Hermes J. Florez
    • , Melinda A. Gaddy
    • , Saib S. Gappy
    • , Gretchen Gibson
    • , Michael Godschalk
    • , Jennifer A. Greco
    • , Samir Gupta
    • , Salvador Gutierrez
    • , Kimberly D. Hammer
    • , Mark B. Hamner
    • , John B. Harley
    • , Adriana M. Hung
    • , Mostaqul Huq
    • , Robin A. Hurley
    • , Pran R. Iruvanti
    • , Douglas J. Ivins
    • , Frank J. Jacono
    • , Darshana N. Jhala
    • , Laurence S. Kaminsky
    • , Scott Kinlay
    • , Jon B. Klein
    • , Suthat Liangpunsakul
    • , Jack H. Lichy
    • , Stephen M. Mastorides
    • , Roy O. Mathew
    • , Kristin M. Mattocks
    • , Rachel McArdle
    • , Paul N. Meyer
    • , Laurence J. Meyer
    • , Jonathan P. Moorman
    • , Timothy R. Morgan
    • , Maureen Murdoch
    • , Xuan-Mai T. Nguyen
    • , Olaoluwa O. Okusaga
    • , Kris-Ann K. Oursler
    • , Nora R. Ratcliffe
    • , Michael I. Rauchman
    • , R. Brooks Robey
    • , George W. Ross
    • , Richard J. Servatius
    • , Satish C. Sharma
    • , Scott E. Sherman
    • , Elif Sonel
    • , Peruvemba Sriram
    • , Todd Stapley
    • , Robert T. Striker
    • , Neeraj Tandon
    • , Gerardo Villareal
    • , Agnes S. Wallbom
    • , John M. Wells
    • , Jeffrey C. Whittle
    • , Mary A. Whooley
    • , Junzhe Xu
    • , Shing-Shing Yeh
    • , Michaela Aslan
    • , Jessica V. Brewer
    • , Mary T. Brophy
    • , Todd Connor
    • , Dean P. Argyres
    • , Nhan V. Do
    • , Elizabeth R. Hauser
    • , Donald E. Humphries
    • , Luis E. Selva
    • , Shahpoor Shayan
    • , Brady Stephens
    • , Stacey B. Whitbourne
    • , Hongyu Zhao
    • , Jennifer Moser
    • , Jean C. Beckham
    • , Jim L. Breeling
    • , J. P. Casas Romero
    • , Grant D. Huang
    • , Rachel B. Ramoni
    • , Saiju Pyarajan
    • , Yan V. Sun
    • , Kelly Cho
    • , Peter W. Wilson
    • , Christopher J. O’Donnell
    • , Philip S. Tsao
    • , Kyong-Mi Chang
    • , J. Michael Gaziano
    • , Sumitra Muralidhar
    • , Kyong-Mi Chang
    • , Benjamin F. Voight
    •  & Danish Saleheen

  • Article |

    Whole-genome bisulfite sequencing analysis of human embryonic stem cells shows that DNMT3 deficiency leads to global and local demethylation, which depends on TET activity. Dynamic loci overlap with putative somatic enhancers that are highly methylated in ESCs.

    • Jocelyn Charlton
    • , Eunmi J. Jung
    • , Alexandra L. Mattei
    • , Nina Bailly
    • , Jing Liao
    • , Eric J. Martin
    • , Pay Giesselmann
    • , Björn Brändl
    • , Elena K. Stamenova
    • , Franz-Josef Müller
    • , Evangelos Kiskinis
    • , Andreas Gnirke
    • , Zachary D. Smith
    •  & Alexander Meissner

  • Letter |

    Genome-wide analysis in 212,453 Japanese individuals identifies loci associated with 42 diseases. Comparative analysis with European populations identifies East Asian–specific associations.

    • Kazuyoshi Ishigaki
    • , Masato Akiyama
    • , Masahiro Kanai
    • , Atsushi Takahashi
    • , Eiryo Kawakami
    • , Hiroki Sugishita
    • , Saori Sakaue
    • , Nana Matoba
    • , Siew-Kee Low
    • , Yukinori Okada
    • , Chikashi Terao
    • , Tiffany Amariuta
    • , Steven Gazal
    • , Yuta Kochi
    • , Momoko Horikoshi
    • , Ken Suzuki
    • , Kaoru Ito
    • , Satoshi Koyama
    • , Kouichi Ozaki
    • , Shumpei Niida
    • , Yasushi Sakata
    • , Yasuhiko Sakata
    • , Takashi Kohno
    • , Kouya Shiraishi
    • , Yukihide Momozawa
    • , Makoto Hirata
    • , Koichi Matsuda
    • , Masashi Ikeda
    • , Nakao Iwata
    • , Shiro Ikegawa
    • , Ikuyo Kou
    • , Toshihiro Tanaka
    • , Hidewaki Nakagawa
    • , Akari Suzuki
    • , Tomomitsu Hirota
    • , Mayumi Tamari
    • , Kazuaki Chayama
    • , Daiki Miki
    • , Masaki Mori
    • , Satoshi Nagayama
    • , Yataro Daigo
    • , Yoshio Miki
    • , Toyomasa Katagiri
    • , Osamu Ogawa
    • , Wataru Obara
    • , Hidemi Ito
    • , Teruhiko Yoshida
    • , Issei Imoto
    • , Takashi Takahashi
    • , Chizu Tanikawa
    • , Takao Suzuki
    • , Nobuaki Sinozaki
    • , Shiro Minami
    • , Hiroki Yamaguchi
    • , Satoshi Asai
    • , Yasuo Takahashi
    • , Ken Yamaji
    • , Kazuhisa Takahashi
    • , Tomoaki Fujioka
    • , Ryo Takata
    • , Hideki Yanai
    • , Akihide Masumoto
    • , Yukihiro Koretsune
    • , Hiromu Kutsumi
    • , Masahiko Higashiyama
    • , Shigeo Murayama
    • , Naoko Minegishi
    • , Kichiya Suzuki
    • , Kozo Tanno
    • , Atsushi Shimizu
    • , Taiki Yamaji
    • , Motoki Iwasaki
    • , Norie Sawada
    • , Hirokazu Uemura
    • , Keitaro Tanaka
    • , Mariko Naito
    • , Makoto Sasaki
    • , Kenji Wakai
    • , Shoichiro Tsugane
    • , Masayuki Yamamoto
    • , Kazuhiko Yamamoto
    • , Yoshinori Murakami
    • , Yusuke Nakamura
    • , Soumya Raychaudhuri
    • , Johji Inazawa
    • , Toshimasa Yamauchi
    • , Takashi Kadowaki
    • , Michiaki Kubo
    •  & Yoichiro Kamatani

  • Letter |

    CTCF is dispensable for transdifferentiation of B cells into induced macrophages despite widespread loss of topologically associating domains. CTCF depletion impairs upregulation of inflammatory genes after endotoxin exposure by destabilizing promoter–enhancer interactions.

    • Grégoire Stik
    • , Enrique Vidal
    • , Mercedes Barrero
    • , Sergi Cuartero
    • , Maria Vila-Casadesús
    • , Julen Mendieta-Esteban
    • , Tian V. Tian
    • , Jinmi Choi
    • , Clara Berenguer
    • , Amaya Abad
    • , Beatrice Borsari
    • , François le Dily
    • , Patrick Cramer
    • , Marc A. Marti-Renom
    • , Ralph Stadhouders
    •  & Thomas Graf

  • News & Views |

    TET2 and DNMT3A mutations lead to similar long-term outcomes in blood cancers despite the antagonistic biochemical functions of their encoded proteins. A new study highlights the opposing effects of TET2 and DNMT3A mutations in shaping the early erythroid or myeloid bias of hematopoietic progenitors.

    • Isaac F. López-Moyado
    •  & Anjana Rao

  • Editorial |

    One of the many consequences of the global COVID-19 pandemic is the need for the scientific community to adapt to the cancellation of conferences and events because of travel restrictions and social-distancing guidelines. We have seen a very swift conversion to online meetings, which have allowed for this established form of science communication to continue and opened new avenues for innovation in the reporting of research and discussion of ideas.

  • Article |

    Analysis with alleles encoding pharmacologically degradable Mediator subunits shows that Mediator acts as a global coactivator that facilitates transcription globally but is acutely required for cell-type-specific gene regulatory circuits.

    • Martin G. Jaeger
    • , Björn Schwalb
    • , Sebastian D. Mackowiak
    • , Taras Velychko
    • , Alexander Hanzl
    • , Hana Imrichova
    • , Matthias Brand
    • , Benedikt Agerer
    • , Someth Chorn
    • , Behnam Nabet
    • , Fleur M. Ferguson
    • , André C. Müller
    • , Andreas Bergthaler
    • , Nathanael S. Gray
    • , James E. Bradner
    • , Christoph Bock
    • , Denes Hnisz
    • , Patrick Cramer
    •  & Georg E. Winter

  • Article |

    Immunogenomic analyses of advanced high-grade serous ovarian cancer samples before and after neoadjuvant chemotherapy show that the tumor–immune microenvironment is intrinsically heterogeneous and that chemotherapy induces local immune activation.

    • Alejandro Jiménez-Sánchez
    • , Paulina Cybulska
    • , Katherine LaVigne Mager
    • , Simon Koplev
    • , Oliver Cast
    • , Dominique-Laurent Couturier
    • , Danish Memon
    • , Pier Selenica
    • , Ines Nikolovski
    • , Yousef Mazaheri
    • , Yonina Bykov
    • , Felipe C. Geyer
    • , Geoff Macintyre
    • , Lena Morrill Gavarró
    • , Ruben M. Drews
    • , Michael B. Gill
    • , Anastasios D. Papanastasiou
    • , Ramon E. Sosa
    • , Robert A. Soslow
    • , Tyler Walther
    • , Ronglai Shen
    • , Dennis S. Chi
    • , Kay J. Park
    • , Travis Hollmann
    • , Jorge S. Reis-Filho
    • , Florian Markowetz
    • , Pedro Beltrao
    • , Hebert Alberto Vargas
    • , Dmitriy Zamarin
    • , James D. Brenton
    • , Alexandra Snyder
    • , Britta Weigelt
    • , Evis Sala
    •  & Martin L. Miller

  • Author Correction |

    • 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 |

    Analysis of metastases using a mathematical framework and multi-region sampling data shows that lymph node metastases have higher levels of intratumor heterogeneity than distant metastases, and that these form via different evolutionary mechanisms.

    • Johannes G. Reiter
    • , Wei-Ting Hung
    • , I-Hsiu Lee
    • , Shriya Nagpal
    • , Peter Giunta
    • , Sebastian Degner
    • , Gang Liu
    • , Emma C. E. Wassenaar
    • , William R. Jeck
    • , Martin S. Taylor
    • , Alexander A. Farahani
    • , Hetal D. Marble
    • , Simon Knott
    • , Onno Kranenburg
    • , Jochen K. Lennerz
    •  & Kamila Naxerova

  • Article |

    Single-cell RNA sequencing of colorectal tumors highlights associations between lineage-related gene expression signatures and specific stromal and immune cell populations.

    • Hae-Ock Lee
    • , Yourae Hong
    • , Hakki Emre Etlioglu
    • , Yong Beom Cho
    • , Valentina Pomella
    • , Ben Van den Bosch
    • , Jasper Vanhecke
    • , Sara Verbandt
    • , Hyekyung Hong
    • , Jae-Woong Min
    • , Nayoung Kim
    • , Hye Hyeon Eum
    • , Junbin Qian
    • , Bram Boeckx
    • , Diether Lambrechts
    • , Petros Tsantoulis
    • , Gert De Hertogh
    • , Woosung Chung
    • , Taeseob Lee
    • , Minae An
    • , Hyun-Tae Shin
    • , Je-Gun Joung
    • , Min-Hyeok Jung
    • , Gunhwan Ko
    • , Pratyaksha Wirapati
    • , Seok Hyung Kim
    • , Hee Cheol Kim
    • , Seong Hyeon Yun
    • , Iain Bee Huat Tan
    • , Bobby Ranjan
    • , Woo Yong Lee
    • , Tae-You Kim
    • , Jung Kyoon Choi
    • , Young-Joon Kim
    • , Shyam Prabhakar
    • , Sabine Tejpar
    •  & Woong-Yang Park

  • News & Views |

    Many normal tissues are populated by clonal expansions that compete for space. Colom et al. now show that mutant clones keep other mutant clones in check by effectively annulling one another’s advantages.

    • Kamila Naxerova

  • Letter |

    Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade.

    • Haoyu Zhang
    • , Thomas U. Ahearn
    • , Julie Lecarpentier
    • , Daniel Barnes
    • , Jonathan Beesley
    • , Guanghao Qi
    • , Xia Jiang
    • , Tracy A. O’Mara
    • , Ni Zhao
    • , Manjeet K. Bolla
    • , Alison M. Dunning
    • , Joe Dennis
    • , Qin Wang
    • , Zumuruda Abu Ful
    • , Kristiina Aittomäki
    • , Irene L. Andrulis
    • , Hoda Anton-Culver
    • , Volker Arndt
    • , Kristan J. Aronson
    • , Banu K. Arun
    • , Paul L. Auer
    • , Jacopo Azzollini
    • , Daniel Barrowdale
    • , Heiko Becher
    • , Matthias W. Beckmann
    • , Sabine Behrens
    • , Javier Benitez
    • , Marina Bermisheva
    • , Katarzyna Bialkowska
    • , Ana Blanco
    • , Carl Blomqvist
    • , Natalia V. Bogdanova
    • , Stig E. Bojesen
    • , Bernardo Bonanni
    • , Davide Bondavalli
    • , Ake Borg
    • , Hiltrud Brauch
    • , Hermann Brenner
    • , Ignacio Briceno
    • , Annegien Broeks
    • , Sara Y. Brucker
    • , Thomas Brüning
    • , Barbara Burwinkel
    • , Saundra S. Buys
    • , Helen Byers
    • , Trinidad Caldés
    • , Maria A. Caligo
    • , Mariarosaria Calvello
    • , Daniele Campa
    • , Jose E. Castelao
    • , Jenny Chang-Claude
    • , Stephen J. Chanock
    • , Melissa Christiaens
    • , Hans Christiansen
    • , Wendy K. Chung
    • , Kathleen B. M. Claes
    • , Christine L. Clarke
    • , Sten Cornelissen
    • , Fergus J. Couch
    • , Angela Cox
    • , Simon S. Cross
    • , Kamila Czene
    • , Mary B. Daly
    • , Peter Devilee
    • , Orland Diez
    • , Susan M. Domchek
    • , Thilo Dörk
    • , Miriam Dwek
    • , Diana M. Eccles
    • , Arif B. Ekici
    • , D. Gareth Evans
    • , Peter A. Fasching
    • , Jonine Figueroa
    • , Lenka Foretova
    • , Florentia Fostira
    • , Eitan Friedman
    • , Debra Frost
    • , Manuela Gago-Dominguez
    • , Susan M. Gapstur
    • , Judy Garber
    • , José A. García-Sáenz
    • , Mia M. Gaudet
    • , Simon A. Gayther
    • , Graham G. Giles
    • , Andrew K. Godwin
    • , Mark S. Goldberg
    • , David E. Goldgar
    • , Anna González-Neira
    • , Mark H. Greene
    • , Jacek Gronwald
    • , Pascal Guénel
    • , Lothar Häberle
    • , Eric Hahnen
    • , Christopher A. Haiman
    • , Christopher R. Hake
    • , Per Hall
    • , Ute Hamann
    • , Elaine F. Harkness
    • , Bernadette A. M. Heemskerk-Gerritsen
    • , Peter Hillemanns
    • , Frans B. L. Hogervorst
    • , Bernd Holleczek
    • , Antoinette Hollestelle
    • , Maartje J. Hooning
    • , Robert N. Hoover
    • , John L. Hopper
    • , Anthony Howell
    • , Hanna Huebner
    • , Peter J. Hulick
    • , Evgeny N. Imyanitov
    • , Claudine Isaacs
    • , Louise Izatt
    • , Agnes Jager
    • , Milena Jakimovska
    • , Anna Jakubowska
    • , Paul James
    • , Ramunas Janavicius
    • , Wolfgang Janni
    • , Esther M. John
    • , Michael E. Jones
    • , Audrey Jung
    • , Rudolf Kaaks
    • , Pooja Middha Kapoor
    • , Beth Y. Karlan
    • , Renske Keeman
    • , Sofia Khan
    • , Elza Khusnutdinova
    • , Cari M. Kitahara
    • , Yon-Dschun Ko
    • , Irene Konstantopoulou
    • , Linetta B. Koppert
    • , Stella Koutros
    • , Vessela N. Kristensen
    • , Anne-Vibeke Laenkholm
    • , Diether Lambrechts
    • , Susanna C. Larsson
    • , Pierre Laurent-Puig
    • , Conxi Lazaro
    • , Emilija Lazarova
    • , Flavio Lejbkowicz
    • , Goska Leslie
    • , Fabienne Lesueur
    • , Annika Lindblom
    • , Jolanta Lissowska
    • , Wing-Yee Lo
    • , Jennifer T. Loud
    • , Jan Lubinski
    • , Alicja Lukomska
    • , Robert J. MacInnis
    • , Arto Mannermaa
    • , Mehdi Manoochehri
    • , Siranoush Manoukian
    • , Sara Margolin
    • , Maria Elena Martinez
    • , Laura Matricardi
    • , Lesley McGuffog
    • , Catriona McLean
    • , Noura Mebirouk
    • , Alfons Meindl
    • , Usha Menon
    • , Austin Miller
    • , Elvira Mingazheva
    • , Marco Montagna
    • , Anna Marie Mulligan
    • , Claire Mulot
    • , Taru A. Muranen
    • , Katherine L. Nathanson
    • , Susan L. Neuhausen
    • , Heli Nevanlinna
    • , Patrick Neven
    • , William G. Newman
    • , Finn C. Nielsen
    • , Liene Nikitina-Zake
    • , Jesse Nodora
    • , Kenneth Offit
    • , Edith Olah
    • , Olufunmilayo I. Olopade
    • , Håkan Olsson
    • , Nick Orr
    • , Laura Papi
    • , Janos Papp
    • , Tjoung-Won Park-Simon
    • , Michael T. Parsons
    • , Bernard Peissel
    • , Ana Peixoto
    • , Beth Peshkin
    • , Paolo Peterlongo
    • , Julian Peto
    • , Kelly-Anne Phillips
    • , Marion Piedmonte
    • , Dijana Plaseska-Karanfilska
    • , Karolina Prajzendanc
    • , Ross Prentice
    • , Darya Prokofyeva
    • , Brigitte Rack
    • , Paolo Radice
    • , Susan J. Ramus
    • , Johanna Rantala
    • , Muhammad U. Rashid
    • , Gad Rennert
    • , Hedy S. Rennert
    • , Harvey A. Risch
    • , Atocha Romero
    • , Matti A. Rookus
    • , Matthias Rübner
    • , Thomas Rüdiger
    • , Emmanouil Saloustros
    • , Sarah Sampson
    • , Dale P. Sandler
    • , Elinor J. Sawyer
    • , Maren T. Scheuner
    • , Rita K. Schmutzler
    • , Andreas Schneeweiss
    • , Minouk J. Schoemaker
    • , Ben Schöttker
    • , Peter Schürmann
    • , Leigha Senter
    • , Priyanka Sharma
    • , Mark E. Sherman
    • , Xiao-Ou Shu
    • , Christian F. Singer
    • , Snezhana Smichkoska
    • , Penny Soucy
    • , Melissa C. Southey
    • , John J. Spinelli
    • , Jennifer Stone
    • , Dominique Stoppa-Lyonnet
    • , Anthony J. Swerdlow
    • , Csilla I. Szabo
    • , Rulla M. Tamimi
    • , William J. Tapper
    • , Jack A. Taylor
    • , Manuel R. Teixeira
    • , MaryBeth Terry
    • , Mads Thomassen
    • , Darcy L. Thull
    • , Marc Tischkowitz
    • , Amanda E. Toland
    • , Rob A. E. M. Tollenaar
    • , Ian Tomlinson
    • , Diana Torres
    • , Melissa A. Troester
    • , Thérèse Truong
    • , Nadine Tung
    • , Michael Untch
    • , Celine M. Vachon
    • , Ans M. W. van den Ouweland
    • , Lizet E. van der Kolk
    • , Elke M. van Veen
    • , Elizabeth J. vanRensburg
    • , Ana Vega
    • , Barbara Wappenschmidt
    • , Clarice R. Weinberg
    • , Jeffrey N. Weitzel
    • , Hans Wildiers
    • , Robert Winqvist
    • , Alicja Wolk
    • , Xiaohong R. Yang
    • , Drakoulis Yannoukakos
    • , Wei Zheng
    • , Kristin K. Zorn
    • , Roger L. Milne
    • , Peter Kraft
    • , Jacques Simard
    • , Paul D. P. Pharoah
    • , Kyriaki Michailidou
    • , Antonis C. Antoniou
    • , Marjanka K. Schmidt
    • , Georgia Chenevix-Trench
    • , Douglas F. Easton
    • , Nilanjan Chatterjee
    •  & Montserrat García-Closas

  • Letter |

    Cas9 expression induces DNA damage and activates the p53 pathway, and it can lead to the selection of cells with p53-inactivating mutations. Cas9 is less active in wild-type TP53 cell lines than in TP53-mutant cell lines.

    • Oana M. Enache
    • , Veronica Rendo
    • , Mai Abdusamad
    • , Daniel Lam
    • , Desiree Davison
    • , Sangita Pal
    • , Naomi Currimjee
    • , Julian Hess
    • , Sasha Pantel
    • , Anwesha Nag
    • , Aaron R. Thorner
    • , John G. Doench
    • , Francisca Vazquez
    • , Rameen Beroukhim
    • , Todd R. Golub
    •  & Uri Ben-David

  • Technical Report |

    SAIGE-GENE is a scalable generalized mixed-model region-based association test that can analyze large datasets while accounting for sample relatedness and unbalanced case–control ratios for binary traits.

    • Wei Zhou
    • , Zhangchen Zhao
    • , Jonas B. Nielsen
    • , Lars G. Fritsche
    • , Jonathon LeFaive
    • , Sarah A. Gagliano Taliun
    • , Wenjian Bi
    • , Maiken E. Gabrielsen
    • , Mark J. Daly
    • , Benjamin M. Neale
    • , Kristian Hveem
    • , Goncalo R. Abecasis
    • , Cristen J. Willer
    •  & Seunggeun Lee

  • 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

  • Publisher Correction |

    • Isidro Cortés-Ciriano
    • , Jake June-Koo Lee
    • , Ruibin Xi
    • , Dhawal Jain
    • , Youngsook L. Jung
    • , Lixing Yang
    • , Dmitry Gordenin
    • , Leszek J. Klimczak
    • , Cheng-Zhong Zhang
    • , David S. Pellman
    • , 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
    • , 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. Park

  • 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

  • Editorial |

    The promise of personalized medicine lies in the tailored treatment of individual patients, a process requiring detailed phenotypic and genetic information. Although the widespread collection of such data can help to advance the implementation of precision healthcare, the genomic sequencing data being amassed also include private information that could potentially be used as a basis for genetic discrimination. It is important for the genetics community to be aware of these risks and to contribute to policies designed to monitor and mitigate threats to the equitable treatment of individuals or populations on the basis of genetics.

  • News & Views |

    A new study addresses whether transcription of enhancers and the resulting enhancer RNAs (eRNAs) play a role in mediating long-range interactions between enhancers and promoters. Studying the immunoglobulin heavy chain (Igh) locus, the authors find that transcription of the enhancers per se is required to establish but not maintain these interactions, and this mechanism may apply to a subset of other enhancer–promoter interactions.

    • Douglas R. Higgs

  • News & Views |

    A new study identifies sorbitol dehydrogenase (SORD) deficiency as a slowly progressive hereditary motor axonopathy caused by a genetic defect in the second step of the polyol pathway, thus leading to elevated tissue and blood sorbitol. SORD deficiency is the most common recessive cause of neuropathy, for which therapeutic intervention with aldose reductase inhibitors may have potential.

    • Eva Morava

  • 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
    • , Rosemary R. Shy
    • , 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

  • Letter |

    Genome-wide association analysis for morphological traits across 350 elite maize inbred lines in Chinese and US germplasm identifies loci and genomic regions representing the targets of selection during modern maize breeding.

    • Baobao Wang
    • , Zechuan Lin
    • , Xin Li
    • , Yongping Zhao
    • , Binbin Zhao
    • , Guangxia Wu
    • , Xiaojing Ma
    • , Hai Wang
    • , Yurong Xie
    • , Quanquan Li
    • , Guangshu Song
    • , Dexin Kong
    • , Zhigang Zheng
    • , Hongbin Wei
    • , Rongxin Shen
    • , Hong Wu
    • , Cuixia Chen
    • , Zhaodong Meng
    • , Tianyu Wang
    • , Yu Li
    • , Xinhai Li
    • , Yanhui Chen
    • , Jinsheng Lai
    • , Matthew B. Hufford
    • , Jeffrey Ross-Ibarra
    • , Hang He
    •  & Haiyang Wang

  • 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

  • Editorial |

    In 2015, the World Health Organization (WHO) issued guidelines for the naming of new human infectious diseases. The current global outbreak of the SARS-CoV-2 virus underscores the need to be accurate with our language, particularly as it relates to pandemics.

  • News & Views |

    Cancer cells have the extraordinary evolutionary potential to adapt and acquire resistance to most conventional and targeted therapies. In a new study, Lin et al., develop a systematic approach to identify combination therapies that produce cancer traps, in which evading the first drug makes the cancer vulnerable to the second.

    • Charles Y. Lin

  • Analysis
    | Open Access

    This analysis presents a harmonized meta-knowledgebase to facilitate clinical interpretation of somatic genomic variants in cancer. This community-based project highlights the need for cooperative efforts to curate clinical interpretations of somatic variants for robust practice of precision oncology.

    • Alex H. Wagner
    • , Brian Walsh
    • , Georgia Mayfield
    • , David Tamborero
    • , Dmitriy Sonkin
    • , Kilannin Krysiak
    • , Jordi Deu-Pons
    • , Ryan P. Duren
    • , Jianjiong Gao
    • , Julie McMurry
    • , Sara Patterson
    • , Catherine del Vecchio Fitz
    • , Beth A. Pitel
    • , Ozman U. Sezerman
    • , Kyle Ellrott
    • , Jeremy L. Warner
    • , Damian T. Rieke
    • , Tero Aittokallio
    • , Ethan Cerami
    • , Deborah I. Ritter
    • , Lynn M. Schriml
    • , Robert R. Freimuth
    • , Melissa Haendel
    • , Gordana Raca
    • , Subha Madhavan
    • , Michael Baudis
    • , Jacques S. Beckmann
    • , Rodrigo Dienstmann
    • , Debyani Chakravarty
    • , Xuan Shirley Li
    • , Susan Mockus
    • , Olivier Elemento
    • , Nikolaus Schultz
    • , Nuria Lopez-Bigas
    • , Mark Lawler
    • , Jeremy Goecks
    • , Malachi Griffith
    • , Obi L. Griffith
    •  & Adam A. Margolin

  • 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

  • Analysis |

    Genetic analyses of depression based on minimal phenotyping identify nonspecific genetic risk factors shared between major depressive disorder (MDD) and other psychiatric conditions, suggesting that this approach may have limited ability to identify pathways specific to MDD.

    • Na Cai
    • , Joana A. Revez
    • , Mark J. Adams
    • , Till F. M. Andlauer
    • , Gerome Breen
    • , Enda M. Byrne
    • , Toni-Kim Clarke
    • , Andreas J. Forstner
    • , Hans J. Grabe
    • , Steven P. Hamilton
    • , Douglas F. Levinson
    • , Cathryn M. Lewis
    • , Glyn Lewis
    • , Nicholas G. Martin
    • , Yuri Milaneschi
    • , Ole Mors
    • , Bertram Müller-Myhsok
    • , Brenda W. J. H. Penninx
    • , Roy H. Perlis
    • , Giorgio Pistis
    • , James B. Potash
    • , Martin Preisig
    • , Jianxin Shi
    • , Jordan W. Smoller
    • , Fabien Streit
    • , Henning Tiemeier
    • , Rudolf Uher
    • , Sandra Van der Auwera
    • , Alexander Viktorin
    • , Myrna M. Weissman
    • , Kenneth S. Kendler
    •  & Jonathan Flint

  • Comment |

    Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.

    • Yann Joly
    • , Gratien Dalpé
    • , Charles Dupras
    • , Bénédicte Bévière-Boyer
    • , Aisling de Paor
    • , Edward S. Dove
    • , Palmira Granados Moreno
    • , Calvin W. L. Ho
    • , Chih-Hsing Ho
    • , Katharina Ó Cathaoir
    • , Kazuto Kato
    • , Hannah Kim
    • , Lingqiao Song
    • , Timo Minssen
    • , Pilar Nicolás
    • , Margaret Otlowski
    • , Anya E. R. Prince
    • , Athira P. S. Nair
    • , Ine Van Hoyweghen
    • , Torsten H. Voigt
    • , Chisato Yamasaki
    •  & Yvonne Bombard

  • Perspective |

    Combining genomic data with CRISPR, hiPSC and organoid technologies provides platforms to study the complex genetic architectures of brain disease. These studies could improve genetic diagnosis, drive drug discovery and move the field toward precision medicine.

    • Michael B. Fernando
    • , Tim Ahfeldt
    •  & Kristen J. Brennand

  • Comment |

    The African Orphan Crops Consortium promotes the strategic, genome-enabled improvement of under-researched crops for biodiversity-based, nutritious food solutions in Africa. The African Plant Breeding Academy empowers the continent’s plant breeders to apply advanced genetic approaches and shared genetic solutions to the task of tailoring the immense diversity of underutilized crops to the needs of Africa’s producers, processors and consumers.

    • Ramni Jamnadass
    • , Rita H. Mumm
    • , Iago Hale
    • , Prasad Hendre
    • , Alice Muchugi
    • , Ian K. Dawson
    • , Wayne Powell
    • , Lars Graudal
    • , Howard Yana-Shapiro
    • , Anthony J. Simons
    •  & Allen Van Deynze