Volume 50 Issue 8, August 2018

Volume 50 Issue 8

You've got to crawl before you can climb

The uniquely adapted and indigenous koala faces restricted resources and climate change. Its challenges are those that aboriginal people, and soon all people, will face.

See Johnson et al.

Image: Adam Douglas. Cover Design: Adam Douglas and Erin Dewalt.

Editorial

  • Editorial |

    Genomic research, sensitively deployed, has enormous potential to improve human health, animal health and agricultural crop quality and to guide sustainable contributions to the health of our environment. Within this broad context, we can learn from the metabolic adaptations and vulnerabilities of species threatened by environmental challenges in the context of climate change.

Correspondence

Letters

  • Letter |

    A combined analysis of participants from the UK Biobank and the International Glaucoma Genetic Consortium identifies 85 new loci for intraocular pressure (IOP). Pathway analysis uncovers new pathways associated with both IOP and glaucoma.

    • Stuart MacGregor
    • , Jue-Sheng Ong
    • , Jiyuan An
    • , Xikun Han
    • , Tiger Zhou
    • , Owen M. Siggs
    • , Matthew H. Law
    • , Emmanuelle Souzeau
    • , Shiwani Sharma
    • , David J. Lynn
    • , Jonathan Beesley
    • , Bronwyn Sheldrick
    • , Richard A. Mills
    • , John Landers
    • , Jonathan B. Ruddle
    • , Stuart L. Graham
    • , Paul R. Healey
    • , Andrew J. R. White
    • , Robert J. Casson
    • , Stephen Best
    • , John R Grigg
    • , Ivan Goldberg
    • , Joseph E. Powell
    • , David C. Whiteman
    • , Graham L. Radford-Smith
    • , Nicholas G. Martin
    • , Grant W. Montgomery
    • , Kathryn P. Burdon
    • , David A. Mackey
    • , Puya Gharahkhani
    • , Jamie E. Craig
    •  & Alex W. Hewitt
  • Letter |

    Genome-wide association analyses identify new risk loci for allergic rhinitis and for sensitization to inhalant allergens. The associated regions implicate immune-related pathways, including innate and adaptive IgE-related mechanisms.

    • Johannes Waage
    • , Marie Standl
    • , John A. Curtin
    • , Leon E. Jessen
    • , Jonathan Thorsen
    • , Chao Tian
    • , Nathan Schoettler
    • , Carlos Flores
    • , Abdel Abdellaoui
    • , Tarunveer S. Ahluwalia
    • , Alexessander C. Alves
    • , Andre F. S. Amaral
    • , Josep M. Antó
    • , Andreas Arnold
    • , Amalia Barreto-Luis
    • , Hansjörg Baurecht
    • , Catharina E. M. van Beijsterveldt
    • , Eugene R. Bleecker
    • , Sílvia Bonàs-Guarch
    • , Dorret I. Boomsma
    • , Susanne Brix
    • , Supinda Bunyavanich
    • , Esteban G. Burchard
    • , Zhanghua Chen
    • , Ivan Curjuric
    • , Adnan Custovic
    • , Herman T. den Dekker
    • , Shyamali C. Dharmage
    • , Julia Dmitrieva
    • , Liesbeth Duijts
    • , Markus J. Ege
    • , W. James Gauderman
    • , Michel Georges
    • , Christian Gieger
    • , Frank Gilliland
    • , Raquel Granell
    • , Hongsheng Gui
    • , Torben Hansen
    • , Joachim Heinrich
    • , John Henderson
    • , Natalia Hernandez-Pacheco
    • , Patrick Holt
    • , Medea Imboden
    • , Vincent W. V. Jaddoe
    • , Marjo-Riitta Jarvelin
    • , Deborah L. Jarvis
    • , Kamilla K. Jensen
    • , Ingileif Jónsdóttir
    • , Michael Kabesch
    • , Jaakko Kaprio
    • , Ashish Kumar
    • , Young-Ae Lee
    • , Albert M. Levin
    • , Xingnan Li
    • , Fabian Lorenzo-Diaz
    • , Erik Melén
    • , Josep M. Mercader
    • , Deborah A. Meyers
    • , Rachel Myers
    • , Dan L. Nicolae
    • , Ellen A. Nohr
    • , Teemu Palviainen
    • , Lavinia Paternoster
    • , Craig E. Pennell
    • , Göran Pershagen
    • , Maria Pino-Yanes
    • , Nicole M. Probst-Hensch
    • , Franz Rüschendorf
    • , Angela Simpson
    • , Kari Stefansson
    • , Jordi Sunyer
    • , Gardar Sveinbjornsson
    • , Elisabeth Thiering
    • , Philip J. Thompson
    • , Maties Torrent
    • , David Torrents
    • , Joyce Y. Tung
    • , Carol A. Wang
    • , Stephan Weidinger
    • , Scott Weiss
    • , Gonneke Willemsen
    • , L. Keoki Williams
    • , Carole Ober
    • , David A. Hinds
    • , Manuel A. Ferreira
    • , Hans Bisgaard
    • , David P. Strachan
    •  & Klaus Bønnelykke
  • Letter |

    A genome-wide study identifies common variation near IRF6 associated with liver injury induced by IFN-β in individuals treated for multiple sclerosis. The risk locus is associated with differential expression of IRF6 and may help guide safer use of this biologic.

    • Kaarina Kowalec
    • , Galen E. B. Wright
    • , Britt I. Drögemöller
    • , Folefac Aminkeng
    • , Amit P. Bhavsar
    • , Elaine Kingwell
    • , Eric M. Yoshida
    • , Anthony Traboulsee
    • , Ruth Ann Marrie
    • , Marcelo Kremenchutzky
    • , Trudy L. Campbell
    • , Pierre Duquette
    • , Naga Chalasani
    • , Mia Wadelius
    • , Pär Hallberg
    • , Zongqi Xia
    • , Philip L. De Jager
    • , Joshua C. Denny
    • , Mary F. Davis
    • , Colin J. D. Ross
    • , Helen Tremlett
    •  & Bruce C. Carleton
  • Letter |

    High levels of fumarate or succinate suppress the homologous-recombination DNA-repair pathway in cancer cells that are deficient for FH or SDH, respectively. These tumor cells are vulnerable to PARP inhibitors.

    • Parker L. Sulkowski
    • , Ranjini K. Sundaram
    • , Sebastian Oeck
    • , Christopher D. Corso
    • , Yanfeng Liu
    • , Seth Noorbakhsh
    • , Monica Niger
    • , Marta Boeke
    • , Daiki Ueno
    • , Aravind Nambiar Kalathil
    • , Xun Bao
    • , Jing Li
    • , Brian Shuch
    • , Ranjit S. Bindra
    •  & Peter M. Glazer
  • Letter |

    Biallelic truncating mutations in CTNNA2, encoding αN-catenin, cause a new pachygyria syndrome associated with actin regulation and ARP2 and ARP3 repression in neurons.

    • Ashleigh E. Schaffer
    • , Martin W. Breuss
    • , Ahmet Okay Caglayan
    • , Nouriya Al-Sanaa
    • , Hind Y. Al-Abdulwahed
    • , Hande Kaymakçalan
    • , Cahide Yılmaz
    • , Maha S. Zaki
    • , Rasim O. Rosti
    • , Brett Copeland
    • , Seung Tae Baek
    • , Damir Musaev
    • , Eric C. Scott
    • , Tawfeg Ben-Omran
    • , Ariana Kariminejad
    • , Hulya Kayserili
    • , Faezeh Mojahedi
    • , Majdi Kara
    • , Na Cai
    • , Jennifer L. Silhavy
    • , Seham Elsharif
    • , Elif Fenercioglu
    • , Bruce A. Barshop
    • , Bulent Kara
    • , Rengang Wang
    • , Valentina Stanley
    • , Kiely N. James
    • , Rahul Nachnani
    • , Aneesha Kalur
    • , Hisham Megahed
    • , Faruk Incecik
    • , Sumita Danda
    • , Yasemin Alanay
    • , Eissa Faqeih
    • , Gia Melikishvili
    • , Lobna Mansour
    • , Ian Miller
    • , Biayna Sukhudyan
    • , Jamel Chelly
    • , William B. Dobyns
    • , Kaya Bilguvar
    • , Rami Abou Jamra
    • , Murat Gunel
    •  & Joseph G. Gleeson

Articles

  • Article | | Open Access

    The assembly of the genome of the koala provides insights into its adaptive biology and identifies gene expansions that contribute to its ability to detoxify eucalyptus-derived compounds and perceive plant secondary metabolites.

    • Rebecca N. Johnson
    • , Denis O’Meally
    • , Zhiliang Chen
    • , Graham J. Etherington
    • , Simon Y. W. Ho
    • , Will J. Nash
    • , Catherine E. Grueber
    • , Yuanyuan Cheng
    • , Camilla M. Whittington
    • , Siobhan Dennison
    • , Emma Peel
    • , Wilfried Haerty
    • , Rachel J. O’Neill
    • , Don Colgan
    • , Tonia L. Russell
    • , David E. Alquezar-Planas
    • , Val Attenbrow
    • , Jason G. Bragg
    • , Parice A. Brandies
    • , Amanda Yoon-Yee Chong
    • , Janine E. Deakin
    • , Federica Di Palma
    • , Zachary Duda
    • , Mark D. B. Eldridge
    • , Kyle M. Ewart
    • , Carolyn J. Hogg
    • , Greta J. Frankham
    • , Arthur Georges
    • , Amber K. Gillett
    • , Merran Govendir
    • , Alex D. Greenwood
    • , Takashi Hayakawa
    • , Kristofer M. Helgen
    • , Matthew Hobbs
    • , Clare E. Holleley
    • , Thomas N. Heider
    • , Elizabeth A. Jones
    • , Andrew King
    • , Danielle Madden
    • , Jennifer A. Marshall Graves
    • , Katrina M. Morris
    • , Linda E. Neaves
    • , Hardip R. Patel
    • , Adam Polkinghorne
    • , Marilyn B. Renfree
    • , Charles Robin
    • , Ryan Salinas
    • , Kyriakos Tsangaras
    • , Paul D. Waters
    • , Shafagh A. Waters
    • , Belinda Wright
    • , Marc R. Wilkins
    • , Peter Timms
    •  & Katherine Belov
  • Article |

    Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

    • James J. Lee
    • , Robbee Wedow
    • , Aysu Okbay
    • , Edward Kong
    • , Omeed Maghzian
    • , Meghan Zacher
    • , Tuan Anh Nguyen-Viet
    • , Peter Bowers
    • , Julia Sidorenko
    • , Richard Karlsson Linnér
    • , Mark Alan Fontana
    • , Tushar Kundu
    • , Chanwook Lee
    • , Hui Li
    • , Ruoxi Li
    • , Rebecca Royer
    • , Pascal N. Timshel
    • , Raymond K. Walters
    • , Emily A. Willoughby
    • , Loïc Yengo
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , David A. Hinds
    • , Jennifer C. McCreight.
    • , Karen E. Huber
    • , Nadia K. Litterman
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Elizabeth S. Noblin
    • , Carrie A. M. Northover
    • , Steven J. Pitts
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Aysu Okbay
    • , Jonathan P. Beauchamp
    • , Mark Alan Fontana
    • , James J. Lee
    • , Tune H. Pers
    • , Cornelius A. Rietveld
    • , Patrick Turley
    • , Guo-Bo Chen
    • , Valur Emilsson
    • , S. Fleur W. Meddens
    • , Sven Oskarsson
    • , Joseph K. Pickrell
    • , Kevin Thom
    • , Pascal Timshel
    • , Ronald de Vlaming
    • , Abdel Abdellaoui
    • , Tarunveer S. Ahluwalia
    • , Jonas Bacelis
    • , Clemens Baumbach
    • , Gyda Bjornsdottir
    • , Johannes H. Brandsma
    • , Maria Pina Concas
    • , Jaime Derringer
    • , Nicholas A. Furlotte
    • , Tessel E. Galesloot
    • , Giorgia Girotto
    • , Richa Gupta
    • , Leanne M. Hall
    • , Sarah E. Harris
    • , Edith Hofer
    • , Momoko Horikoshi
    • , Jennifer E. Huffman
    • , Kadri Kaasik
    • , Ioanna P. Kalafati
    • , Robert Karlsson
    • , Augustine Kong
    • , Jari Lahti
    • , Sven J. van der Lee
    • , Christiaan de Leeuw
    • , Penelope A. Lind
    • , Karl-Oskar Lindgren
    • , Tian Liu
    • , Massimo Mangino
    • , Jonathan Marten
    • , Evelin Mihailov
    • , Michael B. Miller
    • , Peter J. van der Most
    • , Christopher Oldmeadow
    • , Antony Payton
    • , Natalia Pervjakova
    • , Wouter J. Peyrot
    • , Yong Qian
    • , Olli Raitakari
    • , Rico Rueedi
    • , Erika Salvi
    • , Börge Schmidt
    • , Katharina E. Schraut
    • , Jianxin Shi
    • , Albert V. Smith
    • , Raymond A. Poot
    • , Beate St Pourcain
    • , Alexander Teumer
    • , Gudmar Thorleifsson
    • , Niek Verweij
    • , Dragana Vuckovic
    • , Juergen Wellmann
    • , Harm-Jan Westra
    • , Jingyun Yang
    • , Wei Zhao
    • , Zhihong Zhu
    • , Behrooz Z. Alizadeh
    • , Najaf Amin
    • , Andrew Bakshi
    • , Sebastian E. Baumeister
    • , Ginevra Biino
    • , Klaus Bønnelykke
    • , Patricia A. Boyle
    • , Harry Campbell
    • , Francesco P. Cappuccio
    • , Gail Davies
    • , Jan-Emmanuel De Neve
    • , Panos Deloukas
    • , Ilja Demuth
    • , Jun Ding
    • , Peter Eibich
    • , Lewin Eisele
    • , Niina Eklund
    • , David M. Evans
    • , Jessica D. Faul
    • , Mary F. Feitosa
    • , Andreas J. Forstner
    • , Ilaria Gandin
    • , Bjarni Gunnarsson
    • , Bjarni V. Halldórsson
    • , Tamara B. Harris
    • , Andrew C. Heath
    • , Lynne J. Hocking
    • , Elizabeth G. Holliday
    • , Georg Homuth
    • , Michael A. Horan
    • , Jouke-Jan Hottenga
    • , Philip L. de Jager
    • , Peter K. Joshi
    • , Astanand Jugessur
    • , Marika A. Kaakinen
    • , Mika Kähönen
    • , Stavroula Kanoni
    • , Liisa Keltigangas-Järvinen
    • , Lambertus A. L. M. Kiemeney
    • , Ivana Kolcic
    • , Seppo Koskinen
    • , Aldi T. Kraja
    • , Martin Kroh
    • , Zoltan Kutalik
    • , Antti Latvala
    • , Lenore J. Launer
    • , Maël P. Lebreton
    • , Douglas F. Levinson
    • , Paul Lichtenstein
    • , Peter Lichtner
    • , David C. M. Liewald
    • , LifeLines Cohort Study, Anu Loukola
    • , Pamela A. Madden
    • , Reedik Mägi
    • , Tomi Mäki-Opas
    • , Riccardo E. Marioni
    • , Pedro Marques-Vidal
    • , Gerardus A. Meddens
    • , George McMahon
    • , Christa Meisinger
    • , Thomas Meitinger
    • , Yusplitri Milaneschi
    • , Lili Milani
    • , Grant W. Montgomery
    • , Ronny Myhre
    • , Christopher P. Nelson
    • , Dale R. Nyholt
    • , William E. R. Ollier
    • , Aarno Palotie
    • , Lavinia Paternoster
    • , Nancy L. Pedersen
    • , Katja E. Petrovic
    • , David J. Porteous
    • , Katri Räikkönen
    • , Susan M. Ring
    • , Antonietta Robino
    • , Olga Rostapshova
    • , Igor Rudan
    • , Aldo Rustichini
    • , Veikko Salomaa
    • , Alan R. Sanders
    • , Antti-Pekka Sarin
    • , Helena Schmidt
    • , Rodney J. Scott
    • , Blair H. Smith
    • , Jennifer A. Smith
    • , Jan A. Staessen
    • , Elisabeth Steinhagen-Thiessen
    • , Konstantin Strauch
    • , Antonio Terracciano
    • , Martin D. Tobin
    • , Sheila Ulivi
    • , Simona Vaccargiu
    • , Lydia Quaye
    • , Frank J. A. van Rooij
    • , Cristina Venturini
    • , Anna A. E. Vinkhuyzen
    • , Uwe Völker
    • , Henry Völzke
    • , Judith M. Vonk
    • , Diego Vozzi
    • , Johannes Waage
    • , Erin B. Ware
    • , Gonneke Willemsen
    • , John R. Attia
    • , David A. Bennett
    • , Klaus Berger
    • , Lars Bertram
    • , Hans Bisgaard
    • , Dorret I. Boomsma
    • , Ingrid B. Borecki
    • , Ute Bültmann
    • , Christopher F. Chabris
    • , Francesco Cucca
    • , Daniele Cusi
    • , Ian J. Deary
    • , George V. Dedoussis
    • , Cornelia M. van Duijn
    • , Johan G. Eriksson
    • , Barbara Franke
    • , Lude Franke
    • , Paolo Gasparini
    • , Pablo V. Gejman
    • , Christian Gieger
    • , Hans-Jörgen Grabe
    • , Jacob Gratten
    • , Patrick J. F. Groenen
    • , Vilmundur Gudnason
    • , Pim van der Harst
    • , Caroline Hayward
    • , David A. Hinds
    • , Wolfgang Hoffmann
    • , Elina Hyppönen
    • , William G. Iacono
    • , Bo Jacobsson
    • , Marjo-Riitta Järvelin
    • , Karl-Heinz Jöckel
    • , Jaakko Kaprio
    • , Sharon L. R. Kardia
    • , Terho Lehtimäki
    • , Steven F. Lehrer
    • , Patrik K. E. Magnusson
    • , Nicholas G. Martin
    • , Matt McGue
    • , Andres Metspalu
    • , Neil Pendleton
    • , Brenda W. J. H. Penninx
    • , Markus Perola
    • , Nicola Pirastu
    • , Mario Pirastu
    • , Ozren Polasek
    • , Danielle Posthuma
    • , Christine Power
    • , Michael A. Province
    • , Nilesh J. Samani
    • , David Schlessinger
    • , Reinhold Schmidt
    • , Thorkild I. A. Sørensen
    • , Tim D. Spector
    • , Kari Stefansson
    • , Unnur Thorsteinsdottir
    • , A. Roy Thurik
    • , Nicholas J. Timpson
    • , Henning Tiemeier
    • , Joyce Y. Tung
    • , André G. Uitterlinden
    • , Veronique Vitart
    • , Peter Vollenweider
    • , David R. Weir
    • , James F. Wilson
    • , Alan F. Wright
    • , Dalton C. Conley
    • , Robert F. Krueger
    • , George Davey Smith
    • , Albert Hofman
    • , David I. Laibson
    • , Sarah E. Medland
    • , Michelle N. Meyer
    • , Jian Yang
    • , Magnus Johannesson
    • , Peter M. Visscher
    • , Tõnu Esko
    • , Philipp D. Koellinger
    • , David Cesarini
    • , Daniel J. Benjamin
    • , Maris Alver
    • , Yanchun Bao
    • , David W. Clark
    • , Felix R. Day
    • , Nicholas A. Furlotte
    • , Peter K. Joshi
    • , Kathryn E. Kemper
    • , Aaron Kleinman
    • , Claudia Langenberg
    • , Reedik Mägi
    • , Joey W. Trampush
    • , Shefali Setia Verma
    • , Yang Wu
    • , Max Lam
    • , Jing Hua Zhao
    • , Zhili Zheng
    • , Jason D. Boardman
    • , Harry Campbell
    • , Jeremy Freese
    • , Kathleen Mullan Harris
    • , Caroline Hayward
    • , Pamela Herd
    • , Meena Kumari
    • , Todd Lencz
    • , Jian’an Luan
    • , Anil K. Malhotra
    • , Andres Metspalu
    • , Lili Milani
    • , Ken K. Ong
    • , John R. B. Perry
    • , David J. Porteous
    • , Marylyn D. Ritchie
    • , Melissa C. Smart
    • , Blair H. Smith
    • , Joyce Y. Tung
    • , Nicholas J. Wareham
    • , James F. Wilson
    • , Jonathan P. Beauchamp
    • , Dalton C. Conley
    • , Tõnu Esko
    • , Steven F. Lehrer
    • , Patrik K. E. Magnusson
    • , Sven Oskarsson
    • , Tune H. Pers
    • , Matthew R. Robinson
    • , Kevin Thom
    • , Chelsea Watson
    • , Christopher F. Chabris
    • , Michelle N. Meyer
    • , David I. Laibson
    • , Jian Yang
    • , Magnus Johannesson
    • , Philipp D. Koellinger
    • , Patrick Turley
    • , Peter M. Visscher
    • , Daniel J. Benjamin
    •  & David Cesarini
  • Article |

    Coding variants in peptidylglycine α-amidating monooxygenase (PAM) associated with type 2 diabetes risk negatively impact overall PAM activity via defects in expression and catalytic function, resulting in reduced insulin content and altered dynamics of insulin secretion.

    • Soren K. Thomsen
    • , Anne Raimondo
    • , Benoit Hastoy
    • , Shahana Sengupta
    • , Xiao-Qing Dai
    • , Austin Bautista
    • , Jenny Censin
    • , Anthony J. Payne
    • , Mahesh M. Umapathysivam
    • , Aliya F. Spigelman
    • , Amy Barrett
    • , Christopher J. Groves
    • , Nicola L. Beer
    • , Jocelyn E. Manning Fox
    • , Mark I. McCarthy
    • , Anne Clark
    • , Anubha Mahajan
    • , Patrik Rorsman
    • , Patrick E. MacDonald
    •  & Anna L. Gloyn
  • Article |

    A coupled knockdown-editing screen shows that CRISPR–Cas9 editing in human cells requires the Fanconi anemia pathway, which acts by diverting double-strand break repair away from non-homologous end joining toward single-strand template repair.

    • Chris D. Richardson
    • , Katelynn R. Kazane
    • , Sharon J. Feng
    • , Elena Zelin
    • , Nicholas L. Bray
    • , Axel J. Schäfer
    • , Stephen N. Floor
    •  & Jacob E. Corn
  • Article |

    Analysis of ATAC-seq and RNA-seq data from stimulated T cells identifies genetic variants that disrupt transcription factor binding sites within ATAC-seq peaks. ATAC quantitative trait loci (ATAC-QTLs) are enriched for autoimmune disease-associated variants.

    • Rachel E. Gate
    • , Christine S. Cheng
    • , Aviva P. Aiden
    • , Atsede Siba
    • , Marcin Tabaka
    • , Dmytro Lituiev
    • , Ido Machol
    • , M. Grace Gordon
    • , Meena Subramaniam
    • , Muhammad Shamim
    • , Kendrick L. Hougen
    • , Ivo Wortman
    • , Su-Chen Huang
    • , Neva C. Durand
    • , Ting Feng
    • , Philip L. De Jager
    • , Howard Y. Chang
    • , Erez Lieberman Aiden
    • , Christophe Benoist
    • , Michael A. Beer
    • , Chun J. Ye
    •  & Aviv Regev
  • Article |

    Multi-contact 4C (MC-4C) sequencing analyzes multi-way conformations of individual alleles. MC-4C identifies the β-globin superenhancer as a hub that can accommodate two genes simultaneously and shows that CTCF-anchored loops collide in WAPL-depleted cells.

    • Amin Allahyar
    • , Carlo Vermeulen
    • , Britta A. M. Bouwman
    • , Peter H. L. Krijger
    • , Marjon J. A. M. Verstegen
    • , Geert Geeven
    • , Melissa van Kranenburg
    • , Mark Pieterse
    • , Roy Straver
    • , Judith H. I. Haarhuis
    • , Kees Jalink
    • , Hans Teunissen
    • , Ivo J. Renkens
    • , Wigard P. Kloosterman
    • , Benjamin D. Rowland
    • , Elzo de Wit
    • , Jeroen de Ridder
    •  & Wouter de Laat
  • Article |

    Using common variants in six non-human primate species, the authors train a deep neural network that identifies pathogenic mutations in patients with rare disease with 88% accuracy and enables the discovery of 14 new candidate genes in intellectual disability.

    • Laksshman Sundaram
    • , Hong Gao
    • , Samskruthi Reddy Padigepati
    • , Jeremy F. McRae
    • , Yanjun Li
    • , Jack A. Kosmicki
    • , Nondas Fritzilas
    • , Jörg Hakenberg
    • , Anindita Dutta
    • , John Shon
    • , Jinbo Xu
    • , Serafim Batzoglou
    • , Xiaolin Li
    •  & Kyle Kai-How Farh
  • Article |

    A high-throughput method for functional SNP identification uses enzymatic restriction to detect altered regulatory protein binding and identifies 148 candidate fSNPs associated with juvenile idiopathic arthritis, including two that regulate STAT4 via the regulatory proteins SATB2 and H1.2.

    • Gang Li
    • , Marta Martínez-Bonet
    • , Di Wu
    • , Yu Yang
    • , Jing Cui
    • , Hung N. Nguyen
    • , Pierre Cunin
    • , Anaïs Levescot
    • , Ming Bai
    • , Harm-Jan Westra
    • , Yukinori Okada
    • , Michael B. Brenner
    • , Soumya Raychaudhuri
    • , Eric A. Hendrickson
    • , Richard L. Maas
    •  & Peter A. Nigrovic

Analysis

  • Analysis |

    The authors identify whole-genome doubling (WGD) in 30% of ~10,000 sequenced tumors from patients with advanced cancer. WGD correlates with increased risk of death across cancer types.

    • Craig M. Bielski
    • , Ahmet Zehir
    • , Alexander V. Penson
    • , Mark T. A. Donoghue
    • , Walid Chatila
    • , Joshua Armenia
    • , Matthew T. Chang
    • , Alison M. Schram
    • , Philip Jonsson
    • , Chaitanya Bandlamudi
    • , Pedram Razavi
    • , Gopa Iyer
    • , Mark E. Robson
    • , Zsofia K. Stadler
    • , Nikolaus Schultz
    • , Jose Baselga
    • , David B. Solit
    • , David M. Hyman
    • , Michael F. Berger
    •  & Barry S. Taylor

Amendments & Corrections