Browse Articles

  • Article |

    Genetic deletion or transcriptional silencing of HERV-H elements in human pluripotent stem cells (hPSCs) eliminates nearby topologically associating domain boundaries, while de novo insertion of HERV-H elements can introduce new ones. Mutations of specific HERV-H elements can impact hPSC differentiation.

    • Yanxiao Zhang
    • , Ting Li
    • , Sebastian Preissl
    • , Maria Luisa Amaral
    • , Jonathan D. Grinstein
    • , Elie N. Farah
    • , Eugin Destici
    • , Yunjiang Qiu
    • , Rong Hu
    • , Ah Young Lee
    • , Sora Chee
    • , Kaiyue Ma
    • , Zhen Ye
    • , Quan Zhu
    • , Hui Huang
    • , Rongxin Fang
    • , Leqian Yu
    • , Juan Carlos Izpisua Belmonte
    • , Jun Wu
    • , Sylvia M. Evans
    • , Neil C. Chi
    •  & Bing Ren
  • Article |

    The authors generate cell lines deficient for 22 BAF subunits, studying effects on complex composition, chromatin accessibility and gene expression. They identify synthetic lethal interactions between SMARCA4–ARID2, SMARCA4–ACTB and SMARCC1–SMARCC2.

    • Sandra Schick
    • , André F. Rendeiro
    • , Kathrin Runggatscher
    • , Anna Ringler
    • , Bernd Boidol
    • , Melanie Hinkel
    • , Peter Májek
    • , Loan Vulliard
    • , Thomas Penz
    • , Katja Parapatics
    • , Christian Schmidl
    • , Jörg Menche
    • , Guido Boehmelt
    • , Mark Petronczki
    • , André C. Müller
    • , Christoph Bock
    •  & Stefan Kubicek
  • Article |

    Systematic analyses of large-scale genome-wide association data provide an overview of pleiotropy and genetic architecture for hundreds of human complex traits and diseases.

    • Kyoko Watanabe
    • , Sven Stringer
    • , Oleksandr Frei
    • , Maša Umićević Mirkov
    • , Christiaan de Leeuw
    • , Tinca J. C. Polderman
    • , Sophie van der Sluis
    • , Ole A. Andreassen
    • , Benjamin M. Neale
    •  & Danielle Posthuma
  • News & Views |

    Far from being junk DNA, the pervasive retrotransposons that populate the genome have a powerful capacity to influence genes and chromatin. A new study demonstrates how the transcription of one such element, HERV-H, can modify the higher-order 3D structure of chromatin during early primate development.

    • Michael I. Robson
    •  & Stefan Mundlos
  • Author Correction |

    • Brian W. Kunkle
    • , Benjamin Grenier-Boley
    • , Rebecca Sims
    • , Joshua C. Bis
    • , Vincent Damotte
    • , Adam C. Naj
    • , Anne Boland
    • , Maria Vronskaya
    • , Sven J. van der Lee
    • , Alexandre Amlie-Wolf
    • , Céline Bellenguez
    • , Aura Frizatti
    • , Vincent Chouraki
    • , Eden R. Martin
    • , Kristel Sleegers
    • , Nandini Badarinarayan
    • , Johanna Jakobsdottir
    • , Kara L. Hamilton-Nelson
    • , Sonia Moreno-Grau
    • , Robert Olaso
    • , Rachel Raybould
    • , Yuning Chen
    • , Amanda B. Kuzma
    • , Mikko Hiltunen
    • , Taniesha Morgan
    • , Shahzad Ahmad
    • , Badri N. Vardarajan
    • , Jacques Epelbaum
    • , Per Hoffmann
    • , Merce Boada
    • , Gary W. Beecham
    • , Jean-Guillaume Garnier
    • , Denise Harold
    • , Annette L. Fitzpatrick
    • , Otto Valladares
    • , Marie-Laure Moutet
    • , Amy Gerrish
    • , Albert V. Smith
    • , Liming Qu
    • , Delphine Bacq
    • , Nicola Denning
    • , Xueqiu Jian
    • , Yi Zhao
    • , Maria Del Zompo
    • , Nick C. Fox
    • , Seung-Hoan Choi
    • , Ignacio Mateo
    • , Joseph T. Hughes
    • , Hieab H. Adams
    • , John Malamon
    • , Florentino Sanchez-Garcia
    • , Yogen Patel
    • , Jennifer A. Brody
    • , Beth A. Dombroski
    • , Maria Candida Deniz Naranjo
    • , Makrina Daniilidou
    • , Gudny Eiriksdottir
    • , Shubhabrata Mukherjee
    • , David Wallon
    • , James Uphill
    • , Thor Aspelund
    • , Laura B. Cantwell
    • , Fabienne Garzia
    • , Daniela Galimberti
    • , Edith Hofer
    • , Mariusz Butkiewicz
    • , Bertrand Fin
    • , Elio Scarpini
    • , Chloe Sarnowski
    • , Will S. Bush
    • , Stéphane Meslage
    • , Johannes Kornhuber
    • , Charles C. White
    • , Yuenjoo Song
    • , Robert C. Barber
    • , Sebastiaan Engelborghs
    • , Sabrina Sordon
    • , Dina Voijnovic
    • , Perrie M. Adams
    • , Rik Vandenberghe
    • , Manuel Mayhaus
    • , L. Adrienne Cupples
    • , Marilyn S. Albert
    • , Peter P. De Deyn
    • , Wei Gu
    • , Jayanadra J. Himali
    • , Duane Beekly
    • , Alessio Squassina
    • , Annette M. Hartmann
    • , Adelina Orellana
    • , Deborah Blacker
    • , Eloy Rodriguez-Rodriguez
    • , Simon Lovestone
    • , Melissa E. Garcia
    • , Rachelle S. Doody
    • , Carmen Munoz-Fernadez
    • , Rebecca Sussams
    • , Honghuang Lin
    • , Thomas J. Fairchild
    • , Yolanda A. Benito
    • , Clive Holmes
    • , Hata Karamujić-Čomić
    • , Matthew P. Frosch
    • , Hakan Thonberg
    • , Wolfgang Maier
    • , Gennady Roshchupkin
    • , Bernardino Ghetti
    • , Vilmantas Giedraitis
    • , Amit Kawalia
    • , Shuo Li
    • , Ryan M. Huebinger
    • , Lena Kilander
    • , Susanne Moebus
    • , Isabel Hernández
    • , M. Ilyas Kamboh
    • , RoseMarie Brundin
    • , James Turton
    • , Qiong Yang
    • , Mindy J. Katz
    • , Letizia Concari
    • , Jenny Lord
    • , Alexa S. Beiser
    • , C. Dirk Keene
    • , Seppo Helisalmi
    • , Iwona Kloszewska
    • , Walter A. Kukull
    • , Anne Maria Koivisto
    • , Aoibhinn Lynch
    • , Lluís Tarraga
    • , Eric B. Larson
    • , Annakaisa Haapasalo
    • , Brian Lawlor
    • , Thomas H. Mosley
    • , Richard B. Lipton
    • , Vincenzo Solfrizzi
    • , Michael Gill
    • , W. T. Longstreth Jr
    • , Thomas J. Montine
    • , Vincenza Frisardi
    • , Monica Diez-Fairen
    • , Fernando Rivadeneira
    • , Ronald C. Petersen
    • , Vincent Deramecourt
    • , Ignacio Alvarez
    • , Francesca Salani
    • , Antonio Ciaramella
    • , Eric Boerwinkle
    • , Eric M. Reiman
    • , Nathalie Fievet
    • , Jerome I. Rotter
    • , Joan S. Reisch
    • , Olivier Hanon
    • , Chiara Cupidi
    • , A. G. Andre Uitterlinden
    • , Donald R. Royall
    • , Carole Dufouil
    • , Raffaele Giovanni Maletta
    • , Itziar de Rojas
    • , Mary Sano
    • , Alexis Brice
    • , Roberta Cecchetti
    • , Peter St George-Hyslop
    • , Karen Ritchie
    • , Magda Tsolaki
    • , Debby W. Tsuang
    • , Bruno Dubois
    • , David Craig
    • , Chuang-Kuo Wu
    • , Hilkka Soininen
    • , Despoina Avramidou
    • , Roger L. Albin
    • , Laura Fratiglioni
    • , Antonia Germanou
    • , Liana G. Apostolova
    • , Lina Keller
    • , Maria Koutroumani
    • , Steven E. Arnold
    • , Francesco Panza
    • , Olymbia Gkatzima
    • , Sanjay Asthana
    • , Didier Hannequin
    • , Patrice Whitehead
    • , Craig S. Atwood
    • , Paolo Caffarra
    • , Harald Hampel
    • , Inés Quintela
    • , Ángel Carracedo
    • , Lars Lannfelt
    • , David C. Rubinsztein
    • , Lisa L. Barnes
    • , Florence Pasquier
    • , Lutz Frölich
    • , Sandra Barral
    • , Bernadette McGuinness
    • , Thomas G. Beach
    • , Janet A. Johnston
    • , James T. Becker
    • , Peter Passmore
    • , Eileen H. Bigio
    • , Jonathan M. Schott
    • , Thomas D. Bird
    • , Jason D. Warren
    • , Bradley F. Boeve
    • , Michelle K. Lupton
    • , James D. Bowen
    • , Petra Proitsi
    • , Adam Boxer
    • , John F. Powell
    • , James R. Burke
    • , John S. K. Kauwe
    • , Jeffrey M. Burns
    • , Michelangelo Mancuso
    • , Joseph D. Buxbaum
    • , Ubaldo Bonuccelli
    • , Nigel J. Cairns
    • , Andrew McQuillin
    • , Chuanhai Cao
    • , Gill Livingston
    • , Chris S. Carlson
    • , Nicholas J. Bass
    • , Cynthia M. Carlsson
    • , John Hardy
    • , Regina M. Carney
    • , Jose Bras
    • , Minerva M. Carrasquillo
    • , Rita Guerreiro
    • , Mariet Allen
    • , Helena C. Chui
    • , Elizabeth Fisher
    • , Carlo Masullo
    • , Elizabeth A. Crocco
    • , Charles DeCarli
    • , Gina Bisceglio
    • , Malcolm Dick
    • , Li Ma
    • , Ranjan Duara
    • , Neill R. Graff-Radford
    • , Denis A. Evans
    • , Angela Hodges
    • , Kelley M. Faber
    • , Martin Scherer
    • , Kenneth B. Fallon
    • , Matthias Riemenschneider
    • , David W. Fardo
    • , Reinhard Heun
    • , Martin R. Farlow
    • , Heike Kölsch
    • , Steven Ferris
    • , Markus Leber
    • , Tatiana M. Foroud
    • , Isabella Heuser
    • , Douglas R. Galasko
    • , Ina Giegling
    • , Marla Gearing
    • , Michael Hüll
    • , Daniel H. Geschwind
    • , John R. Gilbert
    • , John Morris
    • , Robert C. Green
    • , Kevin Mayo
    • , John H. Growdon
    • , Thomas Feulner
    • , Ronald L. Hamilton
    • , Lindy E. Harrell
    • , Dmitriy Drichel
    • , Lawrence S. Honig
    • , Thomas D. Cushion
    • , Matthew J. Huentelman
    • , Paul Hollingworth
    • , Christine M. Hulette
    • , Bradley T. Hyman
    • , Rachel Marshall
    • , Gail P. Jarvik
    • , Alun Meggy
    • , Erin Abner
    • , Georgina E. Menzies
    • , Lee-Way Jin
    • , Ganna Leonenko
    • , Luis M. Real
    • , Gyungah R. Jun
    • , Clinton T. Baldwin
    • , Detelina Grozeva
    • , Anna Karydas
    • , Giancarlo Russo
    • , Jeffrey A. Kaye
    • , Ronald Kim
    • , Frank Jessen
    • , Neil W. Kowall
    • , Bruno Vellas
    • , Joel H. Kramer
    • , Emma Vardy
    • , Frank M. LaFerla
    • , Karl-Heinz Jöckel
    • , James J. Lah
    • , Martin Dichgans
    • , James B. Leverenz
    • , David Mann
    • , Allan I. Levey
    • , Stuart Pickering-Brown
    • , Andrew P. Lieberman
    • , Norman Klopp
    • , Kathryn L. Lunetta
    • , H-Erich Wichmann
    • , Constantine G. Lyketsos
    • , Kevin Morgan
    • , Daniel C. Marson
    • , Kristelle Brown
    • , Frank Martiniuk
    • , Christopher Medway
    • , Deborah C. Mash
    • , Markus M. Nöthen
    • , Eliezer Masliah
    • , Nigel M. Hooper
    • , Wayne C. McCormick
    • , Antonio Daniele
    • , Susan M. McCurry
    • , Anthony Bayer
    • , Andrew N. McDavid
    • , John Gallacher
    • , Ann C. McKee
    • , Hendrik van den Bussche
    • , Marsel Mesulam
    • , Carol Brayne
    • , Bruce L. Miller
    • , Steffi Riedel-Heller
    • , Carol A. Miller
    • , Joshua W. Miller
    • , Ammar Al-Chalabi
    • , John C. Morris
    • , Christopher E. Shaw
    • , Amanda J. Myers
    • , Jens Wiltfang
    • , Sid O’Bryant
    • , John M. Olichney
    • , Victoria Alvarez
    • , Joseph E. Parisi
    • , Andrew B. Singleton
    • , Henry L. Paulson
    • , John Collinge
    • , William R. Perry
    • , Simon Mead
    • , Elaine Peskind
    • , David H. Cribbs
    • , Martin Rossor
    • , Aimee Pierce
    • , Natalie S. Ryan
    • , Wayne W. Poon
    • , Benedetta Nacmias
    • , Huntington Potter
    • , Sandro Sorbi
    • , Joseph F. Quinn
    • , Eleonora Sacchinelli
    • , Ashok Raj
    • , Gianfranco Spalletta
    • , Murray Raskind
    • , Carlo Caltagirone
    • , Paola Bossù
    • , Maria Donata Orfei
    • , Barry Reisberg
    • , Robert Clarke
    • , Christiane Reitz
    • , A David Smith
    • , John M. Ringman
    • , Donald Warden
    • , Erik D. Roberson
    • , Gordon Wilcock
    • , Ekaterina Rogaeva
    • , Amalia Cecilia Bruni
    • , Howard J. Rosen
    • , Maura Gallo
    • , Roger N. Rosenberg
    • , Yoav Ben-Shlomo
    • , Mark A. Sager
    • , Patrizia Mecocci
    • , Andrew J. Saykin
    • , Pau Pastor
    • , Michael L. Cuccaro
    • , Jeffery M. Vance
    • , Julie A. Schneider
    • , Lori S. Schneider
    • , Susan Slifer
    • , William W. Seeley
    • , Amanda G. Smith
    • , Joshua A. Sonnen
    • , Salvatore Spina
    • , Robert A. Stern
    • , Russell H. Swerdlow
    • , Mitchell Tang
    • , Rudolph E. Tanzi
    • , John Q. Trojanowski
    • , Juan C. Troncoso
    • , Vivianna M. Van Deerlin
    • , Linda J. Van Eldik
    • , Harry V. Vinters
    • , Jean Paul Vonsattel
    • , Sandra Weintraub
    • , Kathleen A. Welsh-Bohmer
    • , Kirk C. Wilhelmsen
    • , Jennifer Williamson
    • , Thomas S. Wingo
    • , Randall L. Woltjer
    • , Clinton B. Wright
    • , Chang-En Yu
    • , Lei Yu
    • , Yasaman Saba
    • , Alberto Pilotto
    • , Maria J. Bullido
    • , Oliver Peters
    • , Paul K. Crane
    • , David Bennett
    • , Paola Bosco
    • , Eliecer Coto
    • , Virginia Boccardi
    • , Phil L. De Jager
    • , Alberto Lleo
    • , Nick Warner
    • , Oscar L. Lopez
    • , Martin Ingelsson
    • , Panagiotis Deloukas
    • , Carlos Cruchaga
    • , Caroline Graff
    • , Rhian Gwilliam
    • , Myriam Fornage
    • , Alison M. Goate
    • , Pascual Sanchez-Juan
    • , Patrick G. Kehoe
    • , Najaf Amin
    • , Nilifur Ertekin-Taner
    • , Claudine Berr
    • , Stéphanie Debette
    • , Seth Love
    • , Lenore J. Launer
    • , Steven G. Younkin
    • , Jean-Francois Dartigues
    • , Chris Corcoran
    • , M. Arfan Ikram
    • , Dennis W. Dickson
    • , Gael Nicolas
    • , Dominique Campion
    • , JoAnn Tschanz
    • , Helena Schmidt
    • , Hakon Hakonarson
    • , Jordi Clarimon
    • , Ron Munger
    • , Reinhold Schmidt
    • , Lindsay A. Farrer
    • , Christine Van Broeckhoven
    • , Michael C. O’Donovan
    • , Anita L. DeStefano
    • , Lesley Jones
    • , Jonathan L. Haines
    • , Jean-Francois Deleuze
    • , Michael J. Owen
    • , Vilmundur Gudnason
    • , Richard Mayeux
    • , Valentina Escott-Price
    • , Bruce M. Psaty
    • , Alfredo Ramirez
    • , Li-San Wang
    • , Agustin Ruiz
    • , Cornelia M. van Duijn
    • , Peter A. Holmans
    • , Sudha Seshadri
    • , Julie Williams
    • , Phillippe Amouyel
    • , Gerard D. Schellenberg
    • , Jean-Charles Lambert
    •  & Margaret A. Pericak-Vance
  • Letter |

    Genomic analysis of 906 Clostridium difficile strains shows that this enteropathogen is undergoing speciation, which is linked to the selection of genes involved in sporulation and in the metabolism of simple dietary sugars.

    • Nitin Kumar
    • , Hilary P. Browne
    • , Elisa Viciani
    • , Samuel C. Forster
    • , Simon Clare
    • , Katherine Harcourt
    • , Mark D. Stares
    • , Gordon Dougan
    • , Derek J. Fairley
    • , Paul Roberts
    • , Munir Pirmohamed
    • , Martha R. J. Clokie
    • , Mie Birgitte Frid Jensen
    • , Katherine R. Hargreaves
    • , Margaret Ip
    • , Lothar H. Wieler
    • , Christian Seyboldt
    • , Torbjörn Norén
    • , Thomas V. Riley
    • , Ed J. Kuijper
    • , Brendan W. Wren
    •  & Trevor D. Lawley
  • Letter |

    A mutation in RAS oncogene family-like 3 (RABL3) is discovered in a family with multiple cases of pancreatic cancer. Zebrafish modeling and biochemical approaches suggest that truncated RABL3 elevates KRAS activity via accelerated prenylation.

    • Sahar Nissim
    • , Ignaty Leshchiner
    • , Joseph D. Mancias
    • , Matthew B. Greenblatt
    • , Ophélia Maertens
    • , Christopher A. Cassa
    • , Jill A. Rosenfeld
    • , Andrew G. Cox
    • , John Hedgepeth
    • , Julia I. Wucherpfennig
    • , Andrew J. Kim
    • , Jake E. Henderson
    • , Patrick Gonyo
    • , Anthony Brandt
    • , Ellen Lorimer
    • , Bethany Unger
    • , Jeremy W. Prokop
    • , Jerry R. Heidel
    • , Xiao-Xu Wang
    • , Chinedu I. Ukaegbu
    • , Benjamin C. Jennings
    • , Joao A. Paulo
    • , Sebastian Gableske
    • , Carol A. Fierke
    • , Gad Getz
    • , Shamil R. Sunyaev
    • , J. Wade Harper
    • , Karen Cichowski
    • , Alec C. Kimmelman
    • , Yariv Houvras
    • , Sapna Syngal
    • , Carol Williams
    •  & Wolfram Goessling
  • Article |

    An integrative three-dimensional genomic and transcriptional profiling of four human neural cell types links regulatory elements to their target genes and elucidates the function of noncoding variants in neuropsychiatric disorders.

    • Michael Song
    • , Xiaoyu Yang
    • , Xingjie Ren
    • , Lenka Maliskova
    • , Bingkun Li
    • , Ian R. Jones
    • , Chao Wang
    • , Fadi Jacob
    • , Kenneth Wu
    • , Michela Traglia
    • , Tsz Wai Tam
    • , Kirsty Jamieson
    • , Si-Yao Lu
    • , Guo-Li Ming
    • , Yun Li
    • , Jun Yao
    • , Lauren A. Weiss
    • , Jesse R. Dixon
    • , Luke M. Judge
    • , Bruce R. Conklin
    • , Hongjun Song
    • , Li Gan
    •  & Yin Shen
  • Editorial |

    Record high temperatures are being seen worldwide, thus placing strains on human health and disrupting the availability of essential resources such as food and water. Aberrant weather patterns in the form of intense storms or prolonged drought have put pressure on our agricultural systems and underscored the need for adaptation to a changing climate across many sectors. Complex problems require complex solutions, and genetic approaches could be a powerful tool for helping to mitigate the effects of climate change.

  • Article |

    Removal of boundary and intra-TAD CTCF-binding sites at the Sox9–Kcnj2 locus in mice leads to TAD fusion but no major changes in gene expression. Gene misexpression and disease phenotypes were obtained through inversions and/or repositioning of TAD boundaries.

    • Alexandra Despang
    • , Robert Schöpflin
    • , Martin Franke
    • , Salaheddine Ali
    • , Ivana Jerković
    • , Christina Paliou
    • , Wing-Lee Chan
    • , Bernd Timmermann
    • , Lars Wittler
    • , Martin Vingron
    • , Stefan Mundlos
    •  & Daniel M. Ibrahim
  • Article |

    The authors use theoretical justifications coupled with extensive simulations to accurately estimate SNP-heritability for 22 complex traits and diseases from the UK Biobank data, irrespective of the underlying genetic architecture of the trait.

    • Kangcheng Hou
    • , Kathryn S. Burch
    • , Arunabha Majumdar
    • , Huwenbo Shi
    • , Nicholas Mancuso
    • , Yue Wu
    • , Sriram Sankararaman
    •  & Bogdan Pasaniuc
  • Article |

    Exome sequencing identifies loss-of-function CELA2A mutations in families with early-onset atherosclerosis and metabolic syndrome. Functional studies show that CELA2A is a circulating enzyme that reduces platelet activation, triggers insulin secretion and degradation, and increases insulin sensitivity.

    • Fatemehsadat Esteghamat
    • , James S. Broughton
    • , Emily Smith
    • , Rebecca Cardone
    • , Tarun Tyagi
    • , Mateus Guerra
    • , András Szabó
    • , Nelson Ugwu
    • , Mitra V. Mani
    • , Bani Azari
    • , Gerald Kayingo
    • , Sunny Chung
    • , Mohsen Fathzadeh
    • , Ephraim Weiss
    • , Jeffrey Bender
    • , Shrikant Mane
    • , Richard P. Lifton
    • , Adebowale Adeniran
    • , Michael H. Nathanson
    • , Fred S. Gorelick
    • , John Hwa
    • , Miklós Sahin-Tóth
    • , Renata Belfort-DeAguiar
    • , Richard G. Kibbey
    •  & Arya Mani
  • News & Views |

    Chromatin loops and domains are major organizational hallmarks of chromosomes. New work suggests, however, that these topological features of the genome are poor global predictors of gene activity, raising questions about their function.

    • Elizabeth H. Finn
    •  & Tom Misteli
  • Article |

    Whole-genome sequencing identifies noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and oculopharyngeal myopathy with leukoencephalopathy, three disorders with overlapping clinical features and neuroimaging findings.

    • Hiroyuki Ishiura
    • , Shota Shibata
    • , Jun Yoshimura
    • , Yuta Suzuki
    • , Wei Qu
    • , Koichiro Doi
    • , M. Asem Almansour
    • , Junko Kanda Kikuchi
    • , Makiko Taira
    • , Jun Mitsui
    • , Yuji Takahashi
    • , Yaeko Ichikawa
    • , Tatsuo Mano
    • , Atsushi Iwata
    • , Yasuo Harigaya
    • , Miho Kawabe Matsukawa
    • , Takashi Matsukawa
    • , Masaki Tanaka
    • , Yuichiro Shirota
    • , Ryo Ohtomo
    • , Hisatomo Kowa
    • , Hidetoshi Date
    • , Aki Mitsue
    • , Hiroyuki Hatsuta
    • , Satoru Morimoto
    • , Shigeo Murayama
    • , Yasushi Shiio
    • , Yuko Saito
    • , Akihiko Mitsutake
    • , Mizuho Kawai
    • , Takuya Sasaki
    • , Yusuke Sugiyama
    • , Masashi Hamada
    • , Gaku Ohtomo
    • , Yasuo Terao
    • , Yoshihiko Nakazato
    • , Akitoshi Takeda
    • , Yoshio Sakiyama
    • , Yumi Umeda-Kameyama
    • , Jun Shinmi
    • , Katsuhisa Ogata
    • , Yutaka Kohno
    • , Shen-Yang Lim
    • , Ai Huey Tan
    • , Jun Shimizu
    • , Jun Goto
    • , Ichizo Nishino
    • , Tatsushi Toda
    • , Shinichi Morishita
    •  & Shoji Tsuji
  • Letter |

    Long-read sequencing identifies a GGC repeat expansion in NOTCH2NLC that is associated with neuronal intranuclear inclusion disease, a progressive neurodegenerative disorder. The expansion results in abnormal anti-sense transcripts that could contribute to disease pathogenesis.

    • Jun Sone
    • , Satomi Mitsuhashi
    • , Atsushi Fujita
    • , Takeshi Mizuguchi
    • , Kohei Hamanaka
    • , Keiko Mori
    • , Haruki Koike
    • , Akihiro Hashiguchi
    • , Hiroshi Takashima
    • , Hiroshi Sugiyama
    • , Yutaka Kohno
    • , Yoshihisa Takiyama
    • , Kengo Maeda
    • , Hiroshi Doi
    • , Shigeru Koyano
    • , Hideyuki Takeuchi
    • , Michi Kawamoto
    • , Nobuo Kohara
    • , Tetsuo Ando
    • , Toshiaki Ieda
    • , Yasushi Kita
    • , Norito Kokubun
    • , Yoshio Tsuboi
    • , Kazutaka Katoh
    • , Yoshihiro Kino
    • , Masahisa Katsuno
    • , Yasushi Iwasaki
    • , Mari Yoshida
    • , Fumiaki Tanaka
    • , Ikuo K. Suzuki
    • , Martin C. Frith
    • , Naomichi Matsumoto
    •  & Gen Sobue
  • Author Correction |

    • Mark R. Davies
    • , Liam McIntyre
    • , Ankur Mutreja
    • , Jake A. Lacey
    • , John A. Lees
    • , Rebecca J. Towers
    • , Sebastián Duchêne
    • , Pierre R. Smeesters
    • , Hannah R. Frost
    • , David J. Price
    • , Matthew T. G. Holden
    • , Sophia David
    • , Philip M. Giffard
    • , Kate A. Worthing
    • , Anna C. Seale
    • , James A. Berkley
    • , Simon R. Harris
    • , Tania Rivera-Hernandez
    • , Olga Berking
    • , Amanda J. Cork
    • , Rosângela S. L. A. Torres
    • , Trevor Lithgow
    • , Richard A. Strugnell
    • , Rene Bergmann
    • , Patric Nitsche-Schmitz
    • , Gusharan S. Chhatwal
    • , Stephen D. Bentley
    • , John D. Fraser
    • , Nicole J. Moreland
    • , Jonathan R. Carapetis
    • , Andrew C. Steer
    • , Julian Parkhill
    • , Allan Saul
    • , Deborah A. Williamson
    • , Bart J. Currie
    • , Steven Y. C. Tong
    • , Gordon Dougan
    •  & Mark J. Walker
  • Letter |

    Genome-wide analyses identify eight independent loci associated with anorexia nervosa. Genetic correlations implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.

    • Hunna J. Watson
    • , Zeynep Yilmaz
    • , Laura M. Thornton
    • , Christopher Hübel
    • , Jonathan R. I. Coleman
    • , Héléna A. Gaspar
    • , Julien Bryois
    • , Anke Hinney
    • , Virpi M. Leppä
    • , Manuel Mattheisen
    • , Sarah E. Medland
    • , Stephan Ripke
    • , Shuyang Yao
    • , Paola Giusti-Rodríguez
    • , Ken B. Hanscombe
    • , Kirstin L. Purves
    • , Roger A. H. Adan
    • , Lars Alfredsson
    • , Tetsuya Ando
    • , Ole A. Andreassen
    • , Jessica H. Baker
    • , Wade H. Berrettini
    • , Ilka Boehm
    • , Claudette Boni
    • , Vesna Boraska Perica
    • , Katharina Buehren
    • , Roland Burghardt
    • , Matteo Cassina
    • , Sven Cichon
    • , Maurizio Clementi
    • , Roger D. Cone
    • , Philippe Courtet
    • , Scott Crow
    • , James J. Crowley
    • , Unna N. Danner
    • , Oliver S. P. Davis
    • , Martina de Zwaan
    • , George Dedoussis
    • , Daniela Degortes
    • , Janiece E. DeSocio
    • , Danielle M. Dick
    • , Dimitris Dikeos
    • , Christian Dina
    • , Monika Dmitrzak-Weglarz
    • , Elisa Docampo
    • , Laramie E. Duncan
    • , Karin Egberts
    • , Stefan Ehrlich
    • , Geòrgia Escaramís
    • , Tõnu Esko
    • , Xavier Estivill
    • , Anne Farmer
    • , Angela Favaro
    • , Fernando Fernández-Aranda
    • , Manfred M. Fichter
    • , Krista Fischer
    • , Manuel Föcker
    • , Lenka Foretova
    • , Andreas J. Forstner
    • , Monica Forzan
    • , Christopher S. Franklin
    • , Steven Gallinger
    • , Ina Giegling
    • , Johanna Giuranna
    • , Fragiskos Gonidakis
    • , Philip Gorwood
    • , Monica Gratacos Mayora
    • , Sébastien Guillaume
    • , Yiran Guo
    • , Hakon Hakonarson
    • , Konstantinos Hatzikotoulas
    • , Joanna Hauser
    • , Johannes Hebebrand
    • , Sietske G. Helder
    • , Stefan Herms
    • , Beate Herpertz-Dahlmann
    • , Wolfgang Herzog
    • , Laura M. Huckins
    • , James I. Hudson
    • , Hartmut Imgart
    • , Hidetoshi Inoko
    • , Vladimir Janout
    • , Susana Jiménez-Murcia
    • , Antonio Julià
    • , Gursharan Kalsi
    • , Deborah Kaminská
    • , Jaakko Kaprio
    • , Leila Karhunen
    • , Andreas Karwautz
    • , Martien J. H. Kas
    • , James L. Kennedy
    • , Anna Keski-Rahkonen
    • , Kirsty Kiezebrink
    • , Youl-Ri Kim
    • , Lars Klareskog
    • , Kelly L. Klump
    • , Gun Peggy S. Knudsen
    • , Maria C. La Via
    • , Stephanie Le Hellard
    • , Robert D. Levitan
    • , Dong Li
    • , Lisa Lilenfeld
    • , Bochao Danae Lin
    • , Jolanta Lissowska
    • , Jurjen Luykx
    • , Pierre J. Magistretti
    • , Mario Maj
    • , Katrin Mannik
    • , Sara Marsal
    • , Christian R. Marshall
    • , Morten Mattingsdal
    • , Sara McDevitt
    • , Peter McGuffin
    • , Andres Metspalu
    • , Ingrid Meulenbelt
    • , Nadia Micali
    • , Karen Mitchell
    • , Alessio Maria Monteleone
    • , Palmiero Monteleone
    • , Melissa A. Munn-Chernoff
    • , Benedetta Nacmias
    • , Marie Navratilova
    • , Ioanna Ntalla
    • , Julie K. O’Toole
    • , Roel A. Ophoff
    • , Leonid Padyukov
    • , Aarno Palotie
    • , Jacques Pantel
    • , Hana Papezova
    • , Dalila Pinto
    • , Raquel Rabionet
    • , Anu Raevuori
    • , Nicolas Ramoz
    • , Ted Reichborn-Kjennerud
    • , Valdo Ricca
    • , Samuli Ripatti
    • , Franziska Ritschel
    • , Marion Roberts
    • , Alessandro Rotondo
    • , Dan Rujescu
    • , Filip Rybakowski
    • , Paolo Santonastaso
    • , André Scherag
    • , Stephen W. Scherer
    • , Ulrike Schmidt
    • , Nicholas J. Schork
    • , Alexandra Schosser
    • , Jochen Seitz
    • , Lenka Slachtova
    • , P. Eline Slagboom
    • , Margarita C. T. Slof-Op ‘t Landt
    • , Agnieszka Slopien
    • , Sandro Sorbi
    • , Beata Świątkowska
    • , Jin P. Szatkiewicz
    • , Ioanna Tachmazidou
    • , Elena Tenconi
    • , Alfonso Tortorella
    • , Federica Tozzi
    • , Janet Treasure
    • , Artemis Tsitsika
    • , Marta Tyszkiewicz-Nwafor
    • , Konstantinos Tziouvas
    • , Annemarie A. van Elburg
    • , Eric F. van Furth
    • , Gudrun Wagner
    • , Esther Walton
    • , Elisabeth Widen
    • , Eleftheria Zeggini
    • , Stephanie Zerwas
    • , Stephan Zipfel
    • , Andrew W. Bergen
    • , Joseph M. Boden
    • , Harry Brandt
    • , Steven Crawford
    • , Katherine A. Halmi
    • , L. John Horwood
    • , Craig Johnson
    • , Allan S. Kaplan
    • , Walter H. Kaye
    • , James E. Mitchell
    • , Catherine M. Olsen
    • , John F. Pearson
    • , Nancy L. Pedersen
    • , Michael Strober
    • , Thomas Werge
    • , David C. Whiteman
    • , D. Blake Woodside
    • , Garret D. Stuber
    • , Scott Gordon
    • , Jakob Grove
    • , Anjali K. Henders
    • , Anders Juréus
    • , Katherine M. Kirk
    • , Janne T. Larsen
    • , Richard Parker
    • , Liselotte Petersen
    • , Jennifer Jordan
    • , Martin Kennedy
    • , Grant W. Montgomery
    • , Tracey D. Wade
    • , Andreas Birgegård
    • , Paul Lichtenstein
    • , Claes Norring
    • , Mikael Landén
    • , Nicholas G. Martin
    • , Preben Bo Mortensen
    • , Patrick F. Sullivan
    • , Gerome Breen
    •  & Cynthia M. Bulik
  • News & Views |

    Genetics has played a key role in understanding the relationship between the DNA sequence encoding a protein and the protein’s three-dimensional structure. Two new studies present similar analytical approaches to predict three-dimensional structure on the basis of genetic interaction data.

    • Melissa Chiasson
    •  & Douglas M. Fowler
  • Article |

    Promoter capture Hi-C maps in human pancreatic islets identify more than 1,300 three-dimensional regulatory hubs, linking diabetes-associated enhancers to their target genes. Genetic variation in hubs impacts insulin secretion heritability.

    • Irene Miguel-Escalada
    • , Silvia Bonàs-Guarch
    • , Inês Cebola
    • , Joan Ponsa-Cobas
    • , Julen Mendieta-Esteban
    • , Goutham Atla
    • , Biola M. Javierre
    • , Delphine M. Y. Rolando
    • , Irene Farabella
    • , Claire C. Morgan
    • , Javier García-Hurtado
    • , Anthony Beucher
    • , Ignasi Morán
    • , Lorenzo Pasquali
    • , Mireia Ramos-Rodríguez
    • , Emil V. R. Appel
    • , Allan Linneberg
    • , Anette P. Gjesing
    • , Daniel R. Witte
    • , Oluf Pedersen
    • , Niels Grarup
    • , Philippe Ravassard
    • , David Torrents
    • , Josep M. Mercader
    • , Lorenzo Piemonti
    • , Thierry Berney
    • , Eelco J. P. de Koning
    • , Julie Kerr-Conte
    • , François Pattou
    • , Iryna O. Fedko
    • , Leif Groop
    • , Inga Prokopenko
    • , Torben Hansen
    • , Marc A. Marti-Renom
    • , Peter Fraser
    •  & Jorge Ferrer
  • Article |

    Multi-region sequencing of 35 primary uveal melanomas and their matched metastases yields new insights into the genetics and evolution of these tumors and provides potential biomarkers for progression and therapy.

    • A. Hunter Shain
    • , Mette M. Bagger
    • , Richard Yu
    • , Darwin Chang
    • , Shanshan Liu
    • , Swapna Vemula
    • , Jingly F. Weier
    • , Karin Wadt
    • , Steffen Heegaard
    • , Boris C. Bastian
    •  & Jens F. Kiilgaard
  • Article |

    Application of SuRE reporter technology to survey the effect of 5.9 million SNPs in the human genome on enhancer and promoter activity identifies over 30,000 SNPs that alter the activity of putative regulatory elements.

    • Joris van Arensbergen
    • , Ludo Pagie
    • , Vincent D. FitzPatrick
    • , Marcel de Haas
    • , Marijke P. Baltissen
    • , Federico Comoglio
    • , Robin H. van der Weide
    • , Hans Teunissen
    • , Urmo Võsa
    • , Lude Franke
    • , Elzo de Wit
    • , Michiel Vermeulen
    • , Harmen J. Bussemaker
    •  & Bas van Steensel
  • Editorial |

    We are constantly amazed by the power of genetics and its ability to solve complex and seemingly intractable problems. The creative application of genetic and genomic analyses to diverse areas has led to advances across basic biology and human disease. We hope to continue to see technologies develop that expand the genetic and genomic toolkit and that bring new discoveries and insights into basic and applied research.

  • Article |

    Comprehensive CRISPR mutagenesis targeting all members of the NuRD complex identifies a specific subcomplex required for fetal globin silencing and informs a rational targeting strategy for elevating globin levels while avoiding cytotoxicity.

    • Falak Sher
    • , Mir Hossain
    • , Davide Seruggia
    • , Vivien A. C. Schoonenberg
    • , Qiuming Yao
    • , Paolo Cifani
    • , Laura M. K. Dassama
    • , Mitchel A. Cole
    • , Chunyan Ren
    • , Divya S. Vinjamur
    • , Claudio Macias-Trevino
    • , Kevin Luk
    • , Connor McGuckin
    • , Patrick G. Schupp
    • , Matthew C. Canver
    • , Ryo Kurita
    • , Yukio Nakamura
    • , Yuko Fujiwara
    • , Scot A. Wolfe
    • , Luca Pinello
    • , Takahiro Maeda
    • , Alex Kentsis
    • , Stuart H. Orkin
    •  & Daniel E. Bauer
  • News & Views |

    Although human genetics can help identify new drug targets, the best way to prioritize genes as therapeutic targets is uncertain. A new study describes a framework to prioritize potential targets by integrating genome-wide association data with genomic features, disease ontologies and network connectivity.

    • Robert M. Plenge
  • Letter |

    A genetics-led translational approach integrating functional genomic predictors, knowledge of network connectivity and immune ontologies defines the drug target prioritization landscape for 30 immune traits at the gene and pathway level.

    • Hai Fang
    • , Georg Beckmann
    • , Chas Bountra
    • , Paul Bowness
    • , Nicola Burgess-Brown
    • , Liz Carpenter
    • , Liye Chen
    • , David Damerell
    • , Ursula Egner
    • , Hai Fang
    • , Ryo Fujii
    • , Trevor Howe
    • , Per-Johan Jakobsson
    • , Andreas Katopodis
    • , Julian C. Knight
    • , Brian D. Marsden
    • , Julie De Martino
    • , Gstaiger Matthias
    • , Gilean McVean
    • , Anke Mueller-Fahrnow
    • , Anders Mälarstig
    • , Chris A. O’Callaghan
    • , Nils Ostermann
    • , Jesus R. Paez-cortez
    • , Pieter J. Peeters
    • , Florian Prinz
    • , Patricia Soulard
    • , Michael Sundström
    • , Chiori Yabuki
    • , Jaromir Vlach
    • , Hans De Wolf
    • , Bogdan Knezevic
    • , Katie L. Burnham
    • , Julie Osgood
    • , Anna Sanniti
    • , Alicia Lledó Lara
    • , Silva Kasela
    • , Stephane De Cesco
    • , Jörg K. Wegner
    • , Lahiru Handunnetthi
    • , Fiona E. McCann
    • , Liye Chen
    • , Takuya Sekine
    • , Paul E. Brennan
    • , Brian D. Marsden
    • , David Damerell
    • , Chris A. O’Callaghan
    • , Chas Bountra
    • , Paul Bowness
    • , Yvonne Sundström
    • , Lili Milani
    • , Louise Berg
    • , Hinrich W. Göhlmann
    • , Pieter J. Peeters
    • , Benjamin P. Fairfax
    • , Michael Sundström
    •  & Julian C. Knight
  • News & Views |

    Fhb1 is the most effective and most widely deployed source of durable resistance against Fusarium graminearum, a devastating toxin-producing fungal pathogen affecting wheat. Two new studies identify Fhb1 as an atypical disease resistance gene; this discovery is expected to fuel discussion on the molecular nature of this important disease-resistance locus.

    • Evans S. Lagudah
    •  & Simon G. Krattinger
  • Author Correction |

    • Patrick Turley
    • , Raymond K. Walters
    • , Omeed Maghzian
    • , Aysu Okbay
    • , James J. Lee
    • , Mark Alan Fontana
    • , Tuan Anh Nguyen-Viet
    • , Robbee Wedow
    • , Meghan Zacher
    • , Nicholas A. Furlotte
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , Nicholas A. Furlotte
    • , David A. Hinds
    • , Bethann S. Hromatka
    • , Karen E. Huber
    • , Aaron Kleinman
    • , Nadia K. Litterman
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Carrie A. M. Northover
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Steven J. Pitts
    • , Patrik Magnusson
    • , Sven Oskarsson
    • , Magnus Johannesson
    • , Peter M. Visscher
    • , David Laibson
    • , David Cesarini
    • , Benjamin M. Neale
    •  & Daniel J. Benjamin
  • Letter |

    Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.

    • Ryan N. Doan
    • , Elaine T. Lim
    • , Silvia De Rubeis
    • , Catalina Betancur
    • , David J. Cutler
    • , Andreas G. Chiocchetti
    • , Lynne M. Overman
    • , Aubrie Soucy
    • , Susanne Goetze
    • , Christine M. Freitag
    • , Mark J. Daly
    • , Christopher A. Walsh
    • , Joseph D. Buxbaum
    •  & Timothy W. Yu
  • Article |

    Whole-genome sequencing and association analysis of 270 Epstein–Barr virus (EBV) isolates from China identify two non-synonymous EBV variants within BALF2 that are strongly associated with the risk of nasopharyngeal carcinoma.

    • Miao Xu
    • , Youyuan Yao
    • , Hui Chen
    • , Shanshan Zhang
    • , Su-Mei Cao
    • , Zhe Zhang
    • , Bing Luo
    • , Zhiwei Liu
    • , Zilin Li
    • , Tong Xiang
    • , Guiping He
    • , Qi-Sheng Feng
    • , Li-Zhen Chen
    • , Xiang Guo
    • , Wei-Hua Jia
    • , Ming-Yuan Chen
    • , Xiao Zhang
    • , Shang-Hang Xie
    • , Roujun Peng
    • , Ellen T. Chang
    • , Vincent Pedergnana
    • , Lin Feng
    • , Jin-Xin Bei
    • , Rui-Hua Xu
    • , Mu-Sheng Zeng
    • , Weimin Ye
    • , Hans-Olov Adami
    • , Xihong Lin
    • , Weiwei Zhai
    • , Yi-Xin Zeng
    •  & Jianjun Liu
  • Article |

    Analysis of evolutionary dynamics of colorectal cancers and paired distant brain or liver metastases provides evidence that early disseminated cancer cells seed metastases before the carcinoma is clinically detectable.

    • Zheng Hu
    • , Jie Ding
    • , Zhicheng Ma
    • , Ruping Sun
    • , Jose A. Seoane
    • , J. Scott Shaffer
    • , Carlos J. Suarez
    • , Anna S. Berghoff
    • , Chiara Cremolini
    • , Alfredo Falcone
    • , Fotios Loupakis
    • , Peter Birner
    • , Matthias Preusser
    • , Heinz-Josef Lenz
    •  & Christina Curtis
  • Article |

    The authors present a method for determining 3D protein structures using high-throughput mutation experiments. Pairs of residues with the largest positive epistasis are sufficient to determine the 3D fold.

    • Nathan J. Rollins
    • , Kelly P. Brock
    • , Frank J. Poelwijk
    • , Michael A. Stiffler
    • , Nicholas P. Gauthier
    • , Chris Sander
    •  & Debora S. Marks
  • Article |

    This method predicts three-dimensional protein structures based on the activity of mutant variants. The approach relies on quantifying genetic interactions between mutations to infer direct contacts between residues.

    • Jörn M. Schmiedel
    •  & Ben Lehner
  • Author Correction
    | Open Access

    In the version of this article initially published, there was a mistake in the calculation of the nucleotide mutation rate per site per generation: 1 × 10−9 mutations per site per generation was used, whereas 9.5 × 10−9 was correct. This error affects the interpretation of population-size changes over time and their possible correspondence with known geological events, as shown in the original Fig. 4 and supporting discussion in the text, as well as details in the Supplementary Note. Neither the data themselves nor any other results are affected. Figure 4 has been revised accordingly. Images of the original and corrected figure panels are shown in the correction notice.

    • Jarkko Salojärvi
    • , Olli-Pekka Smolander
    • , Kaisa Nieminen
    • , Sitaram Rajaraman
    • , Omid Safronov
    • , Pezhman Safdari
    • , Airi Lamminmäki
    • , Juha Immanen
    • , Tianying Lan
    • , Jaakko Tanskanen
    • , Pasi Rastas
    • , Ali Amiryousefi
    • , Balamuralikrishna Jayaprakash
    • , Juhana I Kammonen
    • , Risto Hagqvist
    • , Gugan Eswaran
    • , Viivi Helena Ahonen
    • , Juan Alonso Serra
    • , Fred O Asiegbu
    • , Juan de Dios Barajas-Lopez
    • , Daniel Blande
    • , Olga Blokhina
    • , Tiina Blomster
    • , Suvi Broholm
    • , Mikael Brosché
    • , Fuqiang Cui
    • , Chris Dardick
    • , Sanna E Ehonen
    • , Paula Elomaa
    • , Sacha Escamez
    • , Kurt V Fagerstedt
    • , Hiroaki Fujii
    • , Adrien Gauthier
    • , Peter J Gollan
    • , Pauliina Halimaa
    • , Pekka I Heino
    • , Kristiina Himanen
    • , Courtney Hollender
    • , Saijaliisa Kangasjärvi
    • , Leila Kauppinen
    • , Colin T Kelleher
    • , Sari Kontunen-Soppela
    • , J Patrik Koskinen
    • , Andriy Kovalchuk
    • , Sirpa O Kärenlampi
    • , Anna K Kärkönen
    • , Kean-Jin Lim
    • , Johanna Leppälä
    • , Lee Macpherson
    • , Juha Mikola
    • , Katriina Mouhu
    • , Ari Pekka Mähönen
    • , Ülo Niinemets
    • , Elina Oksanen
    • , Kirk Overmyer
    • , E Tapio Palva
    • , Leila Pazouki
    • , Ville Pennanen
    • , Tuula Puhakainen
    • , Péter Poczai
    • , Boy J H M Possen
    • , Matleena Punkkinen
    • , Moona M Rahikainen
    • , Matti Rousi
    • , Raili Ruonala
    • , Christiaan van der Schoot
    • , Alexey Shapiguzov
    • , Maija Sierla
    • , Timo P Sipilä
    • , Suvi Sutela
    • , Teemu H Teeri
    • , Arja I Tervahauta
    • , Aleksia Vaattovaara
    • , Jorma Vahala
    • , Lidia Vetchinnikova
    • , Annikki Welling
    • , Michael Wrzaczek
    • , Enjun Xu
    • , Lars G Paulin
    • , Alan H Schulman
    • , Martin Lascoux
    • , Victor A Albert
    • , Petri Auvinen
    • , Ykä Helariutta
    •  & Jaakko Kangasjärvi
  • Publisher Correction |

    • Fei He
    • , Raj Pasam
    • , Fan Shi
    • , Surya Kant
    • , Gabriel Keeble-Gagnere
    • , Pippa Kay
    • , Kerrie Forrest
    • , Allan Fritz
    • , Pierre Hucl
    • , Krystalee Wiebe
    • , Ron Knox
    • , Richard Cuthbert
    • , Curtis Pozniak
    • , Alina Akhunova
    • , Peter L. Morrell
    • , John P. Davies
    • , Steve R. Webb
    • , German Spangenberg
    • , Ben Hayes
    • , Hans Daetwyler
    • , Josquin Tibbits
    • , Matthew Hayden
    •  & Eduard Akhunov
  • Letter |

    Genetic mapping and functional studies show that mutation of a histidine-rich calcium-binding-protein gene at the Fhb1 locus confers resistance to Fusarium head blight in wheat. Notably, transgenic plants expressing the R allele show enhanced resistance to infection.

    • Guoqiang Li
    • , Jiyang Zhou
    • , Haiyan Jia
    • , Zhongxia Gao
    • , Min Fan
    • , Yanjun Luo
    • , Panting Zhao
    • , Shulin Xue
    • , Na Li
    • , Yang Yuan
    • , Shengwei Ma
    • , Zhongxin Kong
    • , Li Jia
    • , Xia An
    • , Ge Jiang
    • , Wenxing Liu
    • , Wenjin Cao
    • , Rongrong Zhang
    • , Jicai Fan
    • , Xiaowu Xu
    • , Yanfang Liu
    • , Qianqian Kong
    • , Shouhang Zheng
    • , Yao Wang
    • , Bin Qin
    • , Shouyang Cao
    • , Yunxiao Ding
    • , Jinxing Shi
    • , Haisheng Yan
    • , Xin Wang
    • , Congfu Ran
    •  & Zhengqiang Ma
  • Letter |

    Genetic studies using map-based cloning, gene editing, RNA interference, haplotyping and association analyses identify a deletion in TaHRC as a key determinant of Fhb1-mediated resistance to Fusarium head blight in wheat.

    • Zhenqi Su
    • , Amy Bernardo
    • , Bin Tian
    • , Hui Chen
    • , Shan Wang
    • , Hongxiang Ma
    • , Shibin Cai
    • , Dongtao Liu
    • , Dadong Zhang
    • , Tao Li
    • , Harold Trick
    • , Paul St. Amand
    • , Jianming Yu
    • , Zengyan Zhang
    •  & Guihua Bai
  • Publisher Correction |

    • Jeremy Schwartzentruber
    • , Stefanie Foskolou
    • , Helena Kilpinen
    • , Julia Rodrigues
    • , Kaur Alasoo
    • , Andrew J. Knights
    • , Minal Patel
    • , Angela Goncalves
    • , Rita Ferreira
    • , Caroline Louise Benn
    • , Anna Wilbrey
    • , Magda Bictash
    • , Emma Impey
    • , Lishuang Cao
    • , Sergio Lainez
    • , Alexandre Julien Loucif
    • , Paul John Whiting
    • , Alex Gutteridge
    •  & Daniel J. Gaffney
  • Publisher Correction |

    • Antonio F. Pardiñas
    • , Peter Holmans
    • , Andrew J. Pocklington
    • , Valentina Escott-Price
    • , Stephan Ripke
    • , Noa Carrera
    • , Sophie E. Legge
    • , Sophie Bishop
    • , Darren Cameron
    • , Marian L. Hamshere
    • , Jun Han
    • , Leon Hubbard
    • , Amy Lynham
    • , Kiran Mantripragada
    • , Elliott Rees
    • , James H. MacCabe
    • , Steven A. McCarroll
    • , Bernhard T. Baune
    • , Gerome Breen
    • , Enda M. Byrne
    • , Udo Dannlowski
    • , Thalia C. Eley
    • , Caroline Hayward
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  • Publisher Correction |

    • Rainer Malik
    • , Ganesh Chauhan
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    • , Fumihiko Takeuchi
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    • , Ganesh Chauhan
    • , Matthew Traylor
    • , Muralidharan Sargurupremraj
    • , Yukinori Okada
    • , Aniket Mishra
    • , Loes Rutten-Jacobs
    • , Anne-Katrin Giese
    • , Sander W. van der Laan
    • , Solveig Gretarsdottir
    • , Christopher D. Anderson
    • , Michael Chong
    • , Hieab H. H. Adams
    • , Tetsuro Ago
    • , Peter Almgren
    • , Philippe Amouyel
    • , Hakan Ay
    • , Traci M. Bartz
    • , Oscar R. Benavente
    • , Steve Bevan
    • , Giorgio B. Boncoraglio
    • , Robert D. Brown Jr
    • , Adam S. Butterworth
    • , Caty Carrera
    • , Cara L. Carty
    • , Daniel I. Chasman
    • , Wei-Min Chen
    • , John W. Cole
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    • , Ioana Cotlarciuc
    • , Carlos Cruchaga
    • , John Danesh
    • , Paul I. W. de Bakker
    • , Anita L. DeStefano
    • , Marcel den Hoed
    • , Qing Duan
    • , Stefan T. Engelter
    • , Guido J. Falcone
    • , Rebecca F. Gottesman
    • , Raji P. Grewal
    • , Vilmundur Gudnason
    • , Stefan Gustafsson
    • , Jeffrey Haessler
    • , Tamara B. Harris
    • , Ahamad Hassan
    • , Aki S. Havulinna
    • , Susan R. Heckbert
    • , Elizabeth G. Holliday
    • , George Howard
    • , Fang-Chi Hsu
    • , Hyacinth I. Hyacinth
    • , M. Arfan Ikram
    • , Erik Ingelsson
    • , Marguerite R. Irvin
    • , Xueqiu Jian
    • , Jordi Jiménez-Conde
    • , Julie A. Johnson
    • , J. Wouter Jukema
    • , Masahiro Kanai
    • , Keith L. Keene
    • , Brett M. Kissela
    • , Dawn O. Kleindorfer
    • , Charles Kooperberg
    • , Michiaki Kubo
    • , Leslie A. Lange
    • , Carl D. Langefeld
    • , Claudia Langenberg
    • , Lenore J. Launer
    • , Jin-Moo Lee
    • , Robin Lemmens
    • , Didier Leys
    • , Cathryn M. Lewis
    • , Wei-Yu Lin
    • , Arne G. Lindgren
    • , Erik Lorentzen
    • , Patrik K. Magnusson
    • , Jane Maguire
    • , Ani Manichaikul
    • , Patrick F. McArdle
    • , James F. Meschia
    • , Braxton D. Mitchell
    • , Thomas H. Mosley
    • , Michael A. Nalls
    • , Toshiharu Ninomiya
    • , Martin J. O’Donnell
    • , Bruce M. Psaty
    • , Sara L. Pulit
    • , Kristiina Rannikmäe
    • , Alexander P. Reiner
    • , Kathryn M. Rexrode
    • , Kenneth Rice
    • , Stephen S. Rich
    • , Paul M. Ridker
    • , Natalia S. Rost
    • , Peter M. Rothwell
    • , Jerome I. Rotter
    • , Tatjana Rundek
    • , Ralph L. Sacco
    • , Saori Sakaue
    • , Michele M. Sale
    • , Veikko Salomaa
    • , Bishwa R. Sapkota
    • , Reinhold Schmidt
    • , Carsten O. Schmidt
    • , Ulf Schminke
    • , Pankaj Sharma
    • , Agnieszka Slowik
    • , Cathie L. M. Sudlow
    • , Christian Tanislav
    • , Turgut Tatlisumak
    • , Kent D. Taylor
    • , Vincent N. S. Thijs
    • , Gudmar Thorleifsson
    • , Unnur Thorsteinsdottir
    • , Steffen Tiedt
    • , Stella Trompet
    • , Christophe Tzourio
    • , Cornelia M. van Duijn
    • , Matthew Walters
    • , Nicholas J. Wareham
    • , Sylvia Wassertheil-Smoller
    • , James G. Wilson
    • , Kerri L. Wiggins
    • , Qiong Yang
    • , Salim Yusuf
    • , Najaf Amin
    • , Hugo S. Aparicio
    • , Donna K. Arnett
    • , John Attia
    • , Alexa S. Beiser
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    • , Julie E. Buring
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    • , Taiki Yamaji
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    • , Olle Melander
    • , Christina Jern
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    • , W. T. Longstreth Jr
    • , Arndt Rolfs
    • , Jun Hata
    • , Daniel Woo
    • , Jonathan Rosand
    • , Guillaume Pare
    • , Jemma C. Hopewell
    • , Danish Saleheen
    • , Kari Stefansson
    • , Bradford B. Worrall
    • , Steven J. Kittner
    • , Sudha Seshadri
    • , Myriam Fornage
    • , Hugh S. Markus
    • , Joanna M. M. Howson
    • , Yoichiro Kamatani
    • , Stephanie Debette
    • , Martin Dichgans
    • , Dharambir K. Sanghera
    • , Olle Melander
    • , Christina Jern
    • , Daniel Strbian
    • , Israel Fernandez-Cadenas
    • , W. T. Longstreth Jr
    • , Arndt Rolfs
    • , Jun Hata
    • , Daniel Woo
    • , Jonathan Rosand
    • , Guillaume Pare
    • , Jemma C. Hopewell
    • , Danish Saleheen
    • , Kari Stefansson
    • , Bradford B. Worrall
    • , Steven J. Kittner
    • , Sudha Seshadri
    • , Myriam Fornage
    • , Hugh S. Markus
    • , Joanna M. M. Howson
    • , Yoichiro Kamatani
    • , Stephanie Debette
    •  & Martin Dichgans