Latest Research

  • Article |

    Fate-mapping and clonal analysis show that bronchioalveolar stem cells (BASCs) become activated and respond distinctly to different lung injuries and differentiate into multiple cell types. Single-cell RNA-seq analysis identifies new BASC markers.

    • Qiaozhen Liu
    • , Kuo Liu
    • , Guizhong Cui
    • , Xiuzhen Huang
    • , Shun Yao
    • , Wenke Guo
    • , Zhen Qin
    • , Yan Li
    • , Rui Yang
    • , Wenjuan Pu
    • , Libo Zhang
    • , Lingjuan He
    • , Huan Zhao
    • , Wei Yu
    • , Muxue Tang
    • , Xueying Tian
    • , Dongqing Cai
    • , Yu Nie
    • , Shengshou Hu
    • , Tao Ren
    • , Zengyong Qiao
    • , Hefeng Huang
    • , Yi Arial Zeng
    • , Naihe Jing
    • , Guangdun Peng
    • , Hongbin Ji
    •  & Bin Zhou
  • Letter |

    Mendelian randomization analyses using genotyping data, gut metagenomic sequence and fecal short-chain-fatty-acid levels from 952 individuals combined with GWAS data show evidence of a causal effect of the gut microbiome on metabolic traits.

    • Serena Sanna
    • , Natalie R. van Zuydam
    • , Anubha Mahajan
    • , Alexander Kurilshikov
    • , Arnau Vich Vila
    • , Urmo Võsa
    • , Zlatan Mujagic
    • , Ad A. M. Masclee
    • , Daisy M. A. E. Jonkers
    • , Marije Oosting
    • , Leo A. B. Joosten
    • , Mihai G. Netea
    • , Lude Franke
    • , Alexandra Zhernakova
    • , Jingyuan Fu
    • , Cisca Wijmenga
    •  & Mark I. McCarthy
  • Article |

    This study presents the genomes of 2,101 emm28 Streptococcus pyogenes invasive strains, of which 492 were transcriptionally profiled, and 50 were assessed for virulence. GWAS, eQTL analysis, and study of isogenic mutant strains identified an intergenic region that alters global transcript profiles and bacterial virulence.

    • Priyanka Kachroo
    • , Jesus M. Eraso
    • , Stephen B. Beres
    • , Randall J. Olsen
    • , Luchang Zhu
    • , Waleed Nasser
    • , Paul E. Bernard
    • , Concepcion C. Cantu
    • , Matthew Ojeda Saavedra
    • , María José Arredondo
    • , Benjamin Strope
    • , Hackwon Do
    • , Muthiah Kumaraswami
    • , Jaana Vuopio
    • , Kirsi Gröndahl-Yli-Hannuksela
    • , Karl G. Kristinsson
    • , Magnus Gottfredsson
    • , Maiju Pesonen
    • , Johan Pensar
    • , Emily R. Davenport
    • , Andrew G. Clark
    • , Jukka Corander
    • , Dominique A. Caugant
    • , Shahin Gaini
    • , Marita Debess Magnussen
    • , Samantha L. Kubiak
    • , Hoang A. T. Nguyen
    • , S. Wesley Long
    • , Adeline R. Porter
    • , Frank R. DeLeo
    •  & James M. Musser
  • Article |

    A transancestral exome-wide association study for body-fat distribution identifies protein-coding variants that are significantly associated with waist-to-hip ratio adjusted for body mass index.

    • Anne E. Justice
    • , Tugce Karaderi
    • , Heather M. Highland
    • , Kristin L. Young
    • , Mariaelisa Graff
    • , Yingchang Lu
    • , Valérie Turcot
    • , Paul L. Auer
    • , Rebecca S. Fine
    • , Xiuqing Guo
    • , Claudia Schurmann
    • , Adelheid Lempradl
    • , Eirini Marouli
    • , Anubha Mahajan
    • , Thomas W. Winkler
    • , Adam E. Locke
    • , Carolina Medina-Gomez
    • , Tõnu Esko
    • , Sailaja Vedantam
    • , Ayush Giri
    • , Ken Sin Lo
    • , Tamuno Alfred
    • , Poorva Mudgal
    • , Maggie C. Y. Ng
    • , Nancy L. Heard-Costa
    • , Mary F. Feitosa
    • , Alisa K. Manning
    • , Sara M. Willems
    • , Suthesh Sivapalaratnam
    • , Goncalo Abecasis
    • , Dewan S. Alam
    • , Matthew Allison
    • , Philippe Amouyel
    • , Zorayr Arzumanyan
    • , Beverley Balkau
    • , Lisa Bastarache
    • , Sven Bergmann
    • , Lawrence F. Bielak
    • , Matthias Blüher
    • , Michael Boehnke
    • , Heiner Boeing
    • , Eric Boerwinkle
    • , Carsten A. Böger
    • , Jette Bork-Jensen
    • , Erwin P. Bottinger
    • , Donald W. Bowden
    • , Ivan Brandslund
    • , Linda Broer
    • , Amber A. Burt
    • , Adam S. Butterworth
    • , Mark J. Caulfield
    • , Giancarlo Cesana
    • , John C. Chambers
    • , Daniel I. Chasman
    • , Yii-Der Ida Chen
    • , Rajiv Chowdhury
    • , Cramer Christensen
    • , Audrey Y. Chu
    • , Francis S. Collins
    • , James P. Cook
    • , Amanda J. Cox
    • , David S. Crosslin
    • , John Danesh
    • , Paul I. W. de Bakker
    • , Simon de Denus
    • , Renée de Mutsert
    • , George Dedoussis
    • , Ellen W. Demerath
    • , Joe G. Dennis
    • , Josh C. Denny
    • , Emanuele Di Angelantonio
    • , Marcus Dörr
    • , Fotios Drenos
    • , Marie-Pierre Dubé
    • , Alison M. Dunning
    • , Douglas F. Easton
    • , Paul Elliott
    • , Evangelos Evangelou
    • , Aliki-Eleni Farmaki
    • , Shuang Feng
    • , Ele Ferrannini
    • , Jean Ferrieres
    • , Jose C. Florez
    • , Myriam Fornage
    • , Caroline S. Fox
    • , Paul W. Franks
    • , Nele Friedrich
    • , Wei Gan
    • , Ilaria Gandin
    • , Paolo Gasparini
    • , Vilmantas Giedraitis
    • , Giorgia Girotto
    • , Mathias Gorski
    • , Harald Grallert
    • , Niels Grarup
    • , Megan L. Grove
    • , Stefan Gustafsson
    • , Jeff Haessler
    • , Torben Hansen
    • , Andrew T. Hattersley
    • , Caroline Hayward
    • , Iris M. Heid
    • , Oddgeir L. Holmen
    • , G. Kees Hovingh
    • , Joanna M. M. Howson
    • , Yao Hu
    • , Yi-Jen Hung
    • , Kristian Hveem
    • , M. Arfan Ikram
    • , Erik Ingelsson
    • , Anne U. Jackson
    • , Gail P. Jarvik
    • , Yucheng Jia
    • , Torben Jørgensen
    • , Pekka Jousilahti
    • , Johanne M. Justesen
    • , Bratati Kahali
    • , Maria Karaleftheri
    • , Sharon L. R. Kardia
    • , Fredrik Karpe
    • , Frank Kee
    • , Hidetoshi Kitajima
    • , Pirjo Komulainen
    • , Jaspal S. Kooner
    • , Peter Kovacs
    • , Bernhard K. Krämer
    • , Kari Kuulasmaa
    • , Johanna Kuusisto
    • , Markku Laakso
    • , Timo A. Lakka
    • , David Lamparter
    • , Leslie A. Lange
    • , Claudia Langenberg
    • , Eric B. Larson
    • , Nanette R. Lee
    • , Wen-Jane Lee
    • , Terho Lehtimäki
    • , Cora E. Lewis
    • , Huaixing Li
    • , Jin Li
    • , Ruifang Li-Gao
    • , Li-An Lin
    • , Xu Lin
    • , Lars Lind
    • , Jaana Lindström
    • , Allan Linneberg
    • , Ching-Ti Liu
    • , Dajiang J. Liu
    • , Jian’an Luan
    • , Leo-Pekka Lyytikäinen
    • , Stuart MacGregor
    • , Reedik Mägi
    • , Satu Männistö
    • , Gaëlle Marenne
    • , Jonathan Marten
    • , Nicholas G. D. Masca
    • , Mark I. McCarthy
    • , Karina Meidtner
    • , Evelin Mihailov
    • , Leena Moilanen
    • , Marie Moitry
    • , Dennis O. Mook-Kanamori
    • , Anna Morgan
    • , Andrew P. Morris
    • , Martina Müller-Nurasyid
    • , Patricia B. Munroe
    • , Narisu Narisu
    • , Christopher P. Nelson
    • , Matt Neville
    • , Ioanna Ntalla
    • , Jeffrey R. O’Connell
    • , Katharine R. Owen
    • , Oluf Pedersen
    • , Gina M. Peloso
    • , Craig E. Pennell
    • , Markus Perola
    • , James A. Perry
    • , John R. B. Perry
    • , Tune H. Pers
    • , Ailith Ewing
    • , Ozren Polasek
    • , Olli T. Raitakari
    • , Asif Rasheed
    • , Chelsea K. Raulerson
    • , Rainer Rauramaa
    • , Dermot F. Reilly
    • , Alex P. Reiner
    • , Paul M. Ridker
    • , Manuel A. Rivas
    • , Neil R. Robertson
    • , Antonietta Robino
    • , Igor Rudan
    • , Katherine S. Ruth
    • , Danish Saleheen
    • , Veikko Salomaa
    • , Nilesh J. Samani
    • , Pamela J. Schreiner
    • , Matthias B. Schulze
    • , Robert A. Scott
    • , Marcelo Segura-Lepe
    • , Xueling Sim
    • , Andrew J. Slater
    • , Kerrin S. Small
    • , Blair H. Smith
    • , Jennifer A. Smith
    • , Lorraine Southam
    • , Timothy D. Spector
    • , Elizabeth K. Speliotes
    • , Kari Stefansson
    • , Valgerdur Steinthorsdottir
    • , Kathleen E. Stirrups
    • , Konstantin Strauch
    • , Heather M. Stringham
    • , Michael Stumvoll
    • , Liang Sun
    • , Praveen Surendran
    • , Karin M. A. Swart
    • , Jean-Claude Tardif
    • , Kent D. Taylor
    • , Alexander Teumer
    • , Deborah J. Thompson
    • , Gudmar Thorleifsson
    • , Unnur Thorsteinsdottir
    • , Betina H. Thuesen
    • , Anke Tönjes
    • , Mina Torres
    • , Emmanouil Tsafantakis
    • , Jaakko Tuomilehto
    • , André G. Uitterlinden
    • , Matti Uusitupa
    • , Cornelia M. van Duijn
    • , Mauno Vanhala
    • , Rohit Varma
    • , Sita H. Vermeulen
    • , Henrik Vestergaard
    • , Veronique Vitart
    • , Thomas F. Vogt
    • , Dragana Vuckovic
    • , Lynne E. Wagenknecht
    • , Mark Walker
    • , Lars Wallentin
    • , Feijie Wang
    • , Carol A. Wang
    • , Shuai Wang
    • , Nicholas J. Wareham
    • , Helen R. Warren
    • , Dawn M. Waterworth
    • , Jennifer Wessel
    • , Harvey D. White
    • , Cristen J. Willer
    • , James G. Wilson
    • , Andrew R. Wood
    • , Ying Wu
    • , Hanieh Yaghootkar
    • , Jie Yao
    • , Laura M. Yerges-Armstrong
    • , Robin Young
    • , Eleftheria Zeggini
    • , Xiaowei Zhan
    • , Weihua Zhang
    • , Jing Hua Zhao
    • , Wei Zhao
    • , He Zheng
    • , Wei Zhou
    • , M. Carola Zillikens
    • , Fernando Rivadeneira
    • , Ingrid B. Borecki
    • , J. Andrew Pospisilik
    • , Panos Deloukas
    • , Timothy M. Frayling
    • , Guillaume Lettre
    • , Karen L. Mohlke
    • , Jerome I. Rotter
    • , Zoltán Kutalik
    • , Joel N. Hirschhorn
    • , L. Adrienne Cupples
    • , Ruth J. F. Loos
    • , Kari E. North
    •  & Cecilia M. Lindgren
  • Letter |

    The authors transcriptionally profiled postmortem retinas from 453 age-related macular degeneration (AMD) cases and controls. Integration of AMD GWAS with eQTL analysis and TWAS identified several AMD-associated genes.

    • Rinki Ratnapriya
    • , Olukayode A. Sosina
    • , Margaret R. Starostik
    • , Madeline Kwicklis
    • , Rebecca J. Kapphahn
    • , Lars G. Fritsche
    • , Ashley Walton
    • , Marios Arvanitis
    • , Linn Gieser
    • , Alexandra Pietraszkiewicz
    • , Sandra R. Montezuma
    • , Emily Y. Chew
    • , Alexis Battle
    • , Gonçalo R. Abecasis
    • , Deborah A. Ferrington
    • , Nilanjan Chatterjee
    •  & Anand Swaroop
  • Analysis |

    This comprehensive pancancer analysis of RNA-sequencing data from bulk tumors defines the landscape of tumor-infiltrating B cell–receptor repertoires and highlights new mechanisms of tumor immune evasion through genetic alterations.

    • Xihao Hu
    • , Jian Zhang
    • , Jin Wang
    • , Jingxin Fu
    • , Taiwen Li
    • , Xiaoqi Zheng
    • , Binbin Wang
    • , Shengqing Gu
    • , Peng Jiang
    • , Jingyu Fan
    • , Xiaomin Ying
    • , Jing Zhang
    • , Michael C. Carroll
    • , Kai W. Wucherpfennig
    • , Nir Hacohen
    • , Fan Zhang
    • , Peng Zhang
    • , Jun S. Liu
    • , Bo Li
    •  & X. Shirley Liu
  • Article |

    Genomic analysis of 551 esophageal adenocarcinomas identifies new driver mutations and biomarkers associated with poor prognosis. More than 50% of esophageal adenocarcinomas contain sensitizing events for CDK4/CDK6 inhibitors, thus providing an evidence base for targeted therapeutics.

    • Alexander M. Frankell
    • , SriGanesh Jammula
    • , Xiaodun Li
    • , Gianmarco Contino
    • , Sarah Killcoyne
    • , Sujath Abbas
    • , Juliane Perner
    • , Lawrence Bower
    • , Ginny Devonshire
    • , Emma Ococks
    • , Nicola Grehan
    • , James Mok
    • , Maria O’Donovan
    • , Shona MacRae
    • , Matthew D. Eldridge
    • , Simon Tavaré
    • , Rebecca C. Fitzgerald
    • , Ayesha Noorani
    • , Paul A. W. Edwards
    • , Nicola Grehan
    • , Barbara Nutzinger
    • , Caitriona Hughes
    • , Elwira Fidziukiewicz
    • , Shona MacRae
    • , Alex Northrop
    • , Gianmarco Contino
    • , Xiaodun Li
    • , Rachel de la Rue
    • , Annalise Katz-Summercorn
    • , Sujath Abbas
    • , Daniel Loureda
    • , Maria O’Donovan
    • , Ahmad Miremadi
    • , Shalini Malhotra
    • , Monika Tripathi
    • , Simon Tavaré
    • , Andy G. Lynch
    • , Matthew Eldridge
    • , Maria Secrier
    • , Ginny Devonshire
    • , Juliane Perner
    • , SriGanesh Jammula
    • , Jim Davies
    • , Charles Crichton
    • , Nick Carroll
    • , Peter Safranek
    • , Andrew Hindmarsh
    • , Vijayendran Sujendran
    • , Stephen J. Hayes
    • , Yeng Ang
    • , Andrew Sharrocks
    • , Shaun R. Preston
    • , Sarah Oakes
    • , Izhar Bagwan
    • , Vicki Save
    • , Richard J. E. Skipworth
    • , Ted R. Hupp
    • , J. Robert O’Neill
    • , Olga Tucker
    • , Andrew Beggs
    • , Philippe Taniere
    • , Sonia Puig
    • , Timothy J. Underwood
    • , Robert C. Walker
    • , Ben L. Grace
    • , Hugh Barr
    • , Neil Shepherd
    • , Oliver Old
    • , Jesper Lagergren
    • , James Gossage
    • , Andrew Davies
    • , Fuju Chang
    • , Janine Zylstra
    • , Ula Mahadeva
    • , Vicky Goh
    • , Francesca D. Ciccarelli
    • , Grant Sanders
    • , Richard Berrisford
    • , Catherine Harden
    • , Mike Lewis
    • , Ed Cheong
    • , Bhaskar Kumar
    • , Simon L. Parsons
    • , Irshad Soomro
    • , Philip Kaye
    • , John Saunders
    • , Laurence Lovat
    • , Rehan Haidry
    • , Laszlo Igali
    • , Michael Scott
    • , Sharmila Sothi
    • , Sari Suortamo
    • , Suzy Lishman
    • , George B. Hanna
    • , Krishna Moorthy
    • , Christopher J. Peters
    • , Anna Grabowska
    • , Richard Turkington
    • , Damian McManus
    • , Helen Coleman
    • , David Khoo
    • , Will Fickling
    •  & Rebecca C. Fitzgerald
  • Letter |

    Genome-wide association analyses identify 28 new susceptibility loci for type 2 diabetes in the Japanese population. Transethnic comparisons highlight the key role of beta cell dysfunction in type 2 diabetes across different ancestry groups.

    • Ken Suzuki
    • , Masato Akiyama
    • , Kazuyoshi Ishigaki
    • , Masahiro Kanai
    • , Jun Hosoe
    • , Nobuhiro Shojima
    • , Atsushi Hozawa
    • , Aya Kadota
    • , Kiyonori Kuriki
    • , Mariko Naito
    • , Kozo Tanno
    • , Yasushi Ishigaki
    • , Makoto Hirata
    • , Koichi Matsuda
    • , Nakao Iwata
    • , Masashi Ikeda
    • , Norie Sawada
    • , Taiki Yamaji
    • , Motoki Iwasaki
    • , Shiro Ikegawa
    • , Shiro Maeda
    • , Yoshinori Murakami
    • , Kenji Wakai
    • , Shoichiro Tsugane
    • , Makoto Sasaki
    • , Masayuki Yamamoto
    • , Yukinori Okada
    • , Michiaki Kubo
    • , Yoichiro Kamatani
    • , Momoko Horikoshi
    • , Toshimasa Yamauchi
    •  & Takashi Kadowaki
  • Article |

    Oncogenic gain-of-function EZH2 mutations alter gene–promoter interactions and lead to silencing 1,034 of genes within topologically associating domains, thus resulting in inactivation of multiple tumor-suppressor genes.

    • Maria C. Donaldson-Collier
    • , Stephanie Sungalee
    • , Marie Zufferey
    • , Daniele Tavernari
    • , Natalya Katanayeva
    • , Elena Battistello
    • , Marco Mina
    • , Kyle M. Douglass
    • , Timo Rey
    • , Franck Raynaud
    • , Suliana Manley
    • , Giovanni Ciriello
    •  & Elisa Oricchio
  • Article |

    Sequencing of the MHC region in the Japanese population provides insight into population-specific allelic and structural variability. These data enable discovery and fine-mapping of genotype–phenotype associations across 52 phenotypes.

    • Jun Hirata
    • , Kazuyoshi Hosomichi
    • , Saori Sakaue
    • , Masahiro Kanai
    • , Hirofumi Nakaoka
    • , Kazuyoshi Ishigaki
    • , Ken Suzuki
    • , Masato Akiyama
    • , Toshihiro Kishikawa
    • , Kotaro Ogawa
    • , Tatsuo Masuda
    • , Kenichi Yamamoto
    • , Makoto Hirata
    • , Koichi Matsuda
    • , Yukihide Momozawa
    • , Ituro Inoue
    • , Michiaki Kubo
    • , Yoichiro Kamatani
    •  & Yukinori Okada
  • Technical Report |

    GARFIELD is a new approach that classifies genomic features related to phenotypes on the basis of integrating GWAS signals with functional annotations. GARFIELD is used to characterize enrichment patterns for 29 traits integrated with ENCODE and Roadmap Epigenomics annotations.

    • Valentina Iotchkova
    • , Graham R. S. Ritchie
    • , Matthias Geihs
    • , Sandro Morganella
    • , Josine L. Min
    • , Klaudia Walter
    • , Nicholas John Timpson
    • , Ian Dunham
    • , Ewan Birney
    •  & Nicole Soranzo
  • Letter |

    Genome-wide meta-analysis of UK Biobank and arcOGEN (77,052 cases and 378,169 controls) identifies 52 new osteoarthritis risk loci. Integrated eQTL colocalization, fine-mapping, and rare-disease data identify putative effector genes for osteoarthritis.

    • Ioanna Tachmazidou
    • , Konstantinos Hatzikotoulas
    • , Lorraine Southam
    • , Jorge Esparza-Gordillo
    • , Valeriia Haberland
    • , Jie Zheng
    • , Toby Johnson
    • , Mine Koprulu
    • , Eleni Zengini
    • , Julia Steinberg
    • , Jeremy M. Wilkinson
    • , Sahir Bhatnagar
    • , Joshua D. Hoffman
    • , Natalie Buchan
    • , Dániel Süveges
    • , Laura Yerges-Armstrong
    • , George Davey Smith
    • , Tom R. Gaunt
    • , Robert A. Scott
    • , Linda C. McCarthy
    •  & Eleftheria Zeggini
  • Author Correction |

    • Rachel M. Sherman
    • , Juliet Forman
    • , Valentin Antonescu
    • , Daniela Puiu
    • , Michelle Daya
    • , Nicholas Rafaels
    • , Meher Preethi Boorgula
    • , Sameer Chavan
    • , Candelaria Vergara
    • , Victor E. Ortega
    • , Albert M. Levin
    • , Celeste Eng
    • , Maria Yazdanbakhsh
    • , James G. Wilson
    • , Javier Marrugo
    • , Leslie A. Lange
    • , L. Keoki Williams
    • , Harold Watson
    • , Lorraine B. Ware
    • , Christopher O. Olopade
    • , Olufunmilayo Olopade
    • , Ricardo R. Oliveira
    • , Carole Ober
    • , Dan L. Nicolae
    • , Deborah A. Meyers
    • , Alvaro Mayorga
    • , Jennifer Knight-Madden
    • , Tina Hartert
    • , Nadia N. Hansel
    • , Marilyn G. Foreman
    • , Jean G. Ford
    • , Mezbah U. Faruque
    • , Georgia M. Dunston
    • , Luis Caraballo
    • , Esteban G. Burchard
    • , Eugene R. Bleecker
    • , Maria I. Araujo
    • , Edwin F. Herrera-Paz
    • , Monica Campbell
    • , Cassandra Foster
    • , Margaret A. Taub
    • , Terri H. Beaty
    • , Ingo Ruczinski
    • , Rasika A. Mathias
    • , Kathleen C. Barnes
    •  & Steven L. Salzberg
  • Technical Report |

    Graph Genome Pipeline is a read-alignment and variant-calling pipeline based on graph genomes that offers improved read-mapping and variant-calling accuracy while achieving speed comparable to those of linear reference genome pipelines.

    • Goran Rakocevic
    • , Vladimir Semenyuk
    • , Wan-Ping Lee
    • , James Spencer
    • , John Browning
    • , Ivan J. Johnson
    • , Vladan Arsenijevic
    • , Jelena Nadj
    • , Kaushik Ghose
    • , Maria C. Suciu
    • , Sun-Gou Ji
    • , Gülfem Demir
    • , Lizao Li
    • , Berke Ç. Toptaş
    • , Alexey Dolgoborodov
    • , Björn Pollex
    • , Iosif Spulber
    • , Irina Glotova
    • , Péter Kómár
    • , Andrew L. Stachyra
    • , Yilong Li
    • , Milos Popovic
    • , Morten Källberg
    • , Amit Jain
    •  & Deniz Kural
  • Letter |

    Genomic analysis of 151 diploid potatoes and three potato populations produced by self-crossing identifies 344,831 deleterious substitutions and 15 genomic regions with severe segregation distortions, providing the basis for genome design of potato inbred lines.

    • Chunzhi Zhang
    • , Pei Wang
    • , Die Tang
    • , Zhongmin Yang
    • , Fei Lu
    • , Jianjian Qi
    • , Nilesh R. Tawari
    • , Yi Shang
    • , Canhui Li
    •  & Sanwen Huang
  • Letter |

    Association studies of up to 1.2 million individuals identify 566 genetic variants in 406 loci associated with tobacco use and addiction (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci showing pleiotropic association.

    • Mengzhen Liu
    • , Yu Jiang
    • , Robbee Wedow
    • , Yue Li
    • , David M. Brazel
    • , Fang Chen
    • , Gargi Datta
    • , Jose Davila-Velderrain
    • , Daniel McGuire
    • , Chao Tian
    • , Xiaowei Zhan
    • , 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
    • , Amy Mitchell
    • , Anne Heidi Skogholt
    • , Bendik S. Winsvold
    • , Børge Sivertsen
    • , Eystein Stordal
    • , Gunnar Morken
    • , Håvard Kallestad
    • , Ingrid Heuch
    • , John-Anker Zwart
    • , Katrine Kveli Fjukstad
    • , Linda M. Pedersen
    • , Maiken Elvestad Gabrielsen
    • , Marianne Bakke Johnsen
    • , Marit Skrove
    • , Marit Sæbø Indredavik
    • , Ole Kristian Drange
    • , Ottar Bjerkeset
    • , Sigrid Børte
    • , Synne Øien Stensland
    • , Hélène Choquet
    • , Anna R. Docherty
    • , Jessica D. Faul
    • , Johanna R. Foerster
    • , Lars G. Fritsche
    • , Maiken Elvestad Gabrielsen
    • , Scott D. Gordon
    • , Jeffrey Haessler
    • , Jouke-Jan Hottenga
    • , Hongyan Huang
    • , Seon-Kyeong Jang
    • , Philip R. Jansen
    • , Yueh Ling
    • , Reedik Mägi
    • , Nana Matoba
    • , George McMahon
    • , Antonella Mulas
    • , Valeria Orrù
    • , Teemu Palviainen
    • , Anita Pandit
    • , Gunnar W. Reginsson
    • , Anne Heidi Skogholt
    • , Jennifer A. Smith
    • , Amy E. Taylor
    • , Constance Turman
    • , Gonneke Willemsen
    • , Hannah Young
    • , Kendra A. Young
    • , Gregory J. M. Zajac
    • , Wei Zhao
    • , Wei Zhou
    • , Gyda Bjornsdottir
    • , Jason D. Boardman
    • , Michael Boehnke
    • , Dorret I. Boomsma
    • , Chu Chen
    • , Francesco Cucca
    • , Gareth E. Davies
    • , Charles B. Eaton
    • , Marissa A. Ehringer
    • , Tõnu Esko
    • , Edoardo Fiorillo
    • , Nathan A. Gillespie
    • , Daniel F. Gudbjartsson
    • , Toomas Haller
    • , Kathleen Mullan Harris
    • , Andrew C. Heath
    • , John K. Hewitt
    • , Ian B. Hickie
    • , John E. Hokanson
    • , Christian J. Hopfer
    • , David J. Hunter
    • , William G. Iacono
    • , Eric O. Johnson
    • , Yoichiro Kamatani
    • , Sharon L. R. Kardia
    • , Matthew C. Keller
    • , Manolis Kellis
    • , Charles Kooperberg
    • , Peter Kraft
    • , Kenneth S. Krauter
    • , Markku Laakso
    • , Penelope A. Lind
    • , Anu Loukola
    • , Sharon M. Lutz
    • , Pamela A. F. Madden
    • , Nicholas G. Martin
    • , Matt McGue
    • , Matthew B. McQueen
    • , Sarah E. Medland
    • , Andres Metspalu
    • , Karen L. Mohlke
    • , Jonas B. Nielsen
    • , Yukinori Okada
    • , Ulrike Peters
    • , Tinca J. C. Polderman
    • , Danielle Posthuma
    • , Alexander P. Reiner
    • , John P. Rice
    • , Eric Rimm
    • , Richard J. Rose
    • , Valgerdur Runarsdottir
    • , Michael C. Stallings
    • , Alena Stančáková
    • , Hreinn Stefansson
    • , Khanh K. Thai
    • , Hilary A. Tindle
    • , Thorarinn Tyrfingsson
    • , Tamara L. Wall
    • , David R. Weir
    • , Constance Weisner
    • , John B. Whitfield
    • , Bendik Slagsvold Winsvold
    • , Jie Yin
    • , Luisa Zuccolo
    • , Laura J. Bierut
    • , Kristian Hveem
    • , James J. Lee
    • , Marcus R. Munafò
    • , Nancy L. Saccone
    • , Cristen J. Willer
    • , Marilyn C. Cornelis
    • , Sean P. David
    • , David A. Hinds
    • , Eric Jorgenson
    • , Jaakko Kaprio
    • , Jerry A. Stitzel
    • , Kari Stefansson
    • , Thorgeir E. Thorgeirsson
    • , Gonçalo Abecasis
    • , Dajiang J. Liu
    •  & Scott Vrieze
  • Article |

    Genome-wide-association analyses of datasets from Iceland and the UK identify risk variants for nasal polyps and chronic rhinosinusitis. Notably, a loss-of-function missense variant in ALOX15 confers protection against both phenotypes, thus identifying a potential target for therapeutic intervention.

    • Ragnar P. Kristjansson
    • , Stefania Benonisdottir
    • , Olafur B. Davidsson
    • , Asmundur Oddsson
    • , Vinicius Tragante
    • , Jon K. Sigurdsson
    • , Lilja Stefansdottir
    • , Stefan Jonsson
    • , Brynjar O. Jensson
    • , Joseph G. Arthur
    • , Gudny A. Arnadottir
    • , Gerald Sulem
    • , Bjarni V. Halldorsson
    • , Bjarni Gunnarsson
    • , Gisli H. Halldorsson
    • , Olafur A. Stefansson
    • , Gudjon R. Oskarsson
    • , Aimee M. Deaton
    • , Isleifur Olafsson
    • , Gudmundur I. Eyjolfsson
    • , Olof Sigurdardottir
    • , Pall T. Onundarson
    • , David Gislason
    • , Thorarinn Gislason
    • , Bjorn R. Ludviksson
    • , Dora Ludviksdottir
    • , Thorunn A. Olafsdottir
    • , Thorunn Rafnar
    • , Gisli Masson
    • , Florian Zink
    • , Gyda Bjornsdottir
    • , Olafur Th. Magnusson
    • , Unnur S. Bjornsdottir
    • , Gudmar Thorleifsson
    • , Gudmundur L. Norddahl
    • , Daniel F. Gudbjartsson
    • , Unnur Thorsteinsdottir
    • , Ingileif Jonsdottir
    • , Patrick Sulem
    •  & Kari Stefansson
  • Letter |

    Analysis of advanced cancer patients treated with immune-checkpoint inhibitors shows that tumor mutational burden, as assessed by targeted next-generation sequencing, predicts survival after immunotherapy across multiple cancer types.

    • Robert M. Samstein
    • , Chung-Han Lee
    • , Alexander N. Shoushtari
    • , Matthew D. Hellmann
    • , Ronglai Shen
    • , Yelena Y. Janjigian
    • , David A. Barron
    • , Ahmet Zehir
    • , Emmet J. Jordan
    • , Antonio Omuro
    • , Thomas J. Kaley
    • , Sviatoslav M. Kendall
    • , Robert J. Motzer
    • , A. Ari Hakimi
    • , Martin H. Voss
    • , Paul Russo
    • , Jonathan Rosenberg
    • , Gopa Iyer
    • , Bernard H. Bochner
    • , Dean F. Bajorin
    • , Hikmat A. Al-Ahmadie
    • , Jamie E. Chaft
    • , Charles M. Rudin
    • , Gregory J. Riely
    • , Shrujal Baxi
    • , Alan L. Ho
    • , Richard J. Wong
    • , David G. Pfister
    • , Jedd D. Wolchok
    • , Christopher A. Barker
    • , Philip H. Gutin
    • , Cameron W. Brennan
    • , Viviane Tabar
    • , Ingo K. Mellinghoff
    • , Lisa M. DeAngelis
    • , Charlotte E. Ariyan
    • , Nancy Lee
    • , William D. Tap
    • , Mrinal M. Gounder
    • , Sandra P. D’Angelo
    • , Leonard Saltz
    • , Zsofia K. Stadler
    • , Howard I. Scher
    • , Jose Baselga
    • , Pedram Razavi
    • , Christopher A. Klebanoff
    • , Rona Yaeger
    • , Neil H. Segal
    • , Geoffrey Y. Ku
    • , Ronald P. DeMatteo
    • , Marc Ladanyi
    • , Naiyer A. Rizvi
    • , Michael F. Berger
    • , Nadeem Riaz
    • , David B. Solit
    • , Timothy A. Chan
    •  & Luc G. T. Morris
  • Article |

    Analysis of 1,988 cases of B-cell acute lymphoblastic leukemia characterizes 23 subtypes defined by genomic features and shows that two of the subtypes have frequent PAX5 alterations.

    • Zhaohui Gu
    • , Michelle L. Churchman
    • , Kathryn G. Roberts
    • , Ian Moore
    • , Xin Zhou
    • , Joy Nakitandwe
    • , Kohei Hagiwara
    • , Stephane Pelletier
    • , Sebastien Gingras
    • , Hartmut Berns
    • , Debbie Payne-Turner
    • , Ashley Hill
    • , Ilaria Iacobucci
    • , Lei Shi
    • , Stanley Pounds
    • , Cheng Cheng
    • , Deqing Pei
    • , Chunxu Qu
    • , Scott Newman
    • , Meenakshi Devidas
    • , Yunfeng Dai
    • , Shalini C. Reshmi
    • , Julie Gastier-Foster
    • , Elizabeth A. Raetz
    • , Michael J. Borowitz
    • , Brent L. Wood
    • , William L. Carroll
    • , Patrick A. Zweidler-McKay
    • , Karen R. Rabin
    • , Leonard A. Mattano
    • , Kelly W. Maloney
    • , Alessandro Rambaldi
    • , Orietta Spinelli
    • , Jerald P. Radich
    • , Mark D. Minden
    • , Jacob M. Rowe
    • , Selina Luger
    • , Mark R. Litzow
    • , Martin S. Tallman
    • , Janis Racevskis
    • , Yanming Zhang
    • , Ravi Bhatia
    • , Jessica Kohlschmidt
    • , Krzysztof Mrózek
    • , Clara D. Bloomfield
    • , Wendy Stock
    • , Steven Kornblau
    • , Hagop M. Kantarjian
    • , Marina Konopleva
    • , Williams E. Evans
    • , Sima Jeha
    • , Ching-Hon Pui
    • , Jun Yang
    • , Elisabeth Paietta
    • , James R. Downing
    • , Mary V. Relling
    • , Jinghui Zhang
    • , Mignon L. Loh
    • , Stephen P. Hunger
    •  & Charles G. Mullighan
  • Article |

    Analysis of signatures of hypoxia in more than 8,000 tumors from 19 cancer types identifies hypoxia-driven mutation signatures and dysregulation of microRNAs.

    • Vinayak Bhandari
    • , Christianne Hoey
    • , Lydia Y. Liu
    • , Emilie Lalonde
    • , Jessica Ray
    • , Julie Livingstone
    • , Robert Lesurf
    • , Yu-Jia Shiah
    • , Tina Vujcic
    • , Xiaoyong Huang
    • , Shadrielle M. G. Espiritu
    • , Lawrence E. Heisler
    • , Fouad Yousif
    • , Vincent Huang
    • , Takafumi N. Yamaguchi
    • , Cindy Q. Yao
    • , Veronica Y. Sabelnykova
    • , Michael Fraser
    • , Melvin L. K. Chua
    • , Theodorus van der Kwast
    • , Stanley K. Liu
    • , Paul C. Boutros
    •  & Robert G. Bristow
  • Article |

    A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.

    • Richard Karlsson Linnér
    • , Pietro Biroli
    • , Edward Kong
    • , S. Fleur W. Meddens
    • , Robbee Wedow
    • , Mark Alan Fontana
    • , Maël Lebreton
    • , Stephen P. Tino
    • , Abdel Abdellaoui
    • , Anke R. Hammerschlag
    • , Michel G. Nivard
    • , Aysu Okbay
    • , Cornelius A. Rietveld
    • , Pascal N. Timshel
    • , Maciej Trzaskowski
    • , Ronald de Vlaming
    • , Christian L. Zünd
    • , Yanchun Bao
    • , Laura Buzdugan
    • , Ann H. Caplin
    • , Chia-Yen Chen
    • , Peter Eibich
    • , Pierre Fontanillas
    • , Juan R. Gonzalez
    • , Peter K. Joshi
    • , Ville Karhunen
    • , Aaron Kleinman
    • , Remy Z. Levin
    • , Christina M. Lill
    • , Gerardus A. Meddens
    • , Gerard Muntané
    • , Sandra Sanchez-Roige
    • , Frank J. van Rooij
    • , Erdogan Taskesen
    • , Yang Wu
    • , Futao Zhang
    • , Michelle Agee
    • , Babak Alipanahi
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Nicholas A. Furlotte
    • , Karen E. Huber
    • , Nadia K. Litterman
    • , Jennifer C. McCreight
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Carrie A. M. Northover
    • , Steven J. Pitts
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Mawussé Agbessi
    • , Habibul Ahsan
    • , Isabel Alves
    • , Anand Andiappan
    • , Philip Awadalla
    • , Alexis Battle
    • , Frank Beutner
    • , Marc Jan Bonder
    • , Dorret I. Boomsma
    • , Mark Christiansen
    • , Annique Claringbould
    • , Patrick Deelen
    • , Tõnu Esko
    • , Marie-Julie Favé
    • , Lude Franke
    • , Timothy Frayling
    • , Sina A. Gharib
    • , Gregory Gibson
    • , Bastiaan Heijmans
    • , Gibran Hemani
    • , Rick Jansen
    • , Mika Kähönen
    • , Anette Kalnapenkis
    • , Silva Kasela
    • , Johannes Kettunen
    • , Yungil Kim
    • , Holger Kirsten
    • , Peter Kovacs
    • , Knut Krohn
    • , Jaanika Kronberg-Guzman
    • , Viktorija Kukushkina
    • , Zoltan Kutalik
    • , Bernett Lee
    • , Terho Lehtimäki
    • , Markus Loeffler
    • , Urko M. Marigorta
    • , Andres Metspalu
    • , Lili Milani
    • , Grant W. Montgomery
    • , Martina Müller-Nurasyid
    • , Matthias Nauck
    • , Michel G. Nivard
    • , Brenda Penninx
    • , Markus Perola
    • , Natalia Pervjakova
    • , Brandon Pierce
    • , Joseph Powell
    • , Holger Prokisch
    • , Bruce M. Psaty
    • , Olli Raitakari
    • , Susan Ring
    • , Samuli Ripatti
    • , Olaf Rotzchke
    • , Sina Rüeger
    • , Ashis Saha
    • , Markus Scholz
    • , Katharina Schramm
    • , Ilkka Seppälä
    • , Michael Stumvoll
    • , Patrick Sullivan
    • , Peter-Bram t Hoen
    • , Alexander Teumer
    • , Joachim Thiery
    • , Lin Tong
    • , Anke Tönjes
    • , Jenny van Dongen
    • , Joyce van Meurs
    • , Joost Verlouw
    • , Peter M. Visscher
    • , Uwe Völker
    • , Urmo Võsa
    • , Harm-Jan Westra
    • , Hanieh Yaghootkar
    • , Jian Yang
    • , Biao Zeng
    • , Futao Zhang
    • , 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
    • , 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. 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 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
    • , Adam Auton
    • , Jason D. Boardman
    • , David W. Clark
    • , Andrew Conlin
    • , Conor C. Dolan
    • , Urs Fischbacher
    • , Patrick J. F. Groenen
    • , Kathleen Mullan Harris
    • , Gregor Hasler
    • , Albert Hofman
    • , Mohammad A. Ikram
    • , Sonia Jain
    • , Robert Karlsson
    • , Ronald C. Kessler
    • , Maarten Kooyman
    • , James MacKillop
    • , Minna Männikkö
    • , Carlos Morcillo-Suarez
    • , Matthew B. McQueen
    • , Klaus M. Schmidt
    • , Melissa C. Smart
    • , Matthias Sutter
    • , A. Roy Thurik
    • , André G. Uitterlinden
    • , Jon White
    • , Harriet de Wit
    • , Jian Yang
    • , Lars Bertram
    • , Dorret I. Boomsma
    • , Tõnu Esko
    • , Ernst Fehr
    • , David A. Hinds
    • , Magnus Johannesson
    • , Meena Kumari
    • , David Laibson
    • , Patrik K. E. Magnusson
    • , Michelle N. Meyer
    • , Arcadi Navarro
    • , Abraham A. Palmer
    • , Tune H. Pers
    • , Danielle Posthuma
    • , Daniel Schunk
    • , Murray B. Stein
    • , Rauli Svento
    • , Henning Tiemeier
    • , Paul R. H. J. Timmers
    • , Patrick Turley
    • , Robert J. Ursano
    • , Gert G. Wagner
    • , James F. Wilson
    • , Jacob Gratten
    • , James J. Lee
    • , David Cesarini
    • , Daniel J. Benjamin
    • , Philipp D. Koellinger
    •  & Jonathan P. Beauchamp
  • Article |

    New methods for multivariate genome-wide-association meta-analysis (GWAMA) applied to four well-being spectrum traits identifies 304 association loci, representing a 26% increase in the number of signals, as compared with four univariate analyses.

    • Bart M. L. Baselmans
    • , Rick Jansen
    • , Hill F. Ip
    • , Jenny van Dongen
    • , Abdel Abdellaoui
    • , Margot P. van de Weijer
    • , Yanchun Bao
    • , Melissa Smart
    • , Meena Kumari
    • , Gonneke Willemsen
    • , Jouke-Jan Hottenga
    • , Dorret I. Boomsma
    • , Eco J. C. de Geus
    • , Michel G. Nivard
    •  & Meike Bartels
  • Author Correction |

    • Fredrick R. Schumacher
    • , Ali Amin Al Olama
    • , Sonja I. Berndt
    • , Sara Benlloch
    • , Mahbubl Ahmed
    • , Edward J. Saunders
    • , Tokhir Dadaev
    • , Daniel Leongamornlert
    • , Ezequiel Anokian
    • , Clara Cieza-Borrella
    • , Chee Goh
    • , Mark N. Brook
    • , Xin Sheng
    • , Laura Fachal
    • , Joe Dennis
    • , Jonathan Tyrer
    • , Kenneth Muir
    • , Artitaya Lophatananon
    • , Victoria L. Stevens
    • , Susan M. Gapstur
    • , Brian D. Carter
    • , Catherine M. Tangen
    • , Phyllis J. Goodman
    • , Ian M. Thompson Jr
    • , Jyotsna Batra
    • , Suzanne Chambers
    • , Leire Moya
    • , Judith Clements
    • , Lisa Horvath
    • , Wayne Tilley
    • , Gail P. Risbridger
    • , Henrik Gronberg
    • , Markus Aly
    • , Tobias Nordström
    • , Paul Pharoah
    • , Nora Pashayan
    • , Johanna Schleutker
    • , Teuvo L. J. Tammela
    • , Csilla Sipeky
    • , Anssi Auvinen
    • , Demetrius Albanes
    • , Stephanie Weinstein
    • , Alicja Wolk
    • , Niclas Håkansson
    • , Catharine M. L. West
    • , Alison M. Dunning
    • , Neil Burnet
    • , Lorelei A. Mucci
    • , Edward Giovannucci
    • , Gerald L. Andriole
    • , Olivier Cussenot
    • , Géraldine Cancel-Tassin
    • , Stella Koutros
    • , Laura E. Beane Freeman
    • , Karina Dalsgaard Sorensen
    • , Torben Falck Orntoft
    • , Michael Borre
    • , Lovise Maehle
    • , Eli Marie Grindedal
    • , David E. Neal
    • , Jenny L. Donovan
    • , Freddie C. Hamdy
    • , Richard M. Martin
    • , Ruth C. Travis
    • , Tim J. Key
    • , Robert J. Hamilton
    • , Neil E. Fleshner
    • , Antonio Finelli
    • , Sue Ann Ingles
    • , Mariana C. Stern
    • , Barry S. Rosenstein
    • , Sarah L. Kerns
    • , Harry Ostrer
    • , Yong-Jie Lu
    • , Hong-Wei Zhang
    • , Ninghan Feng
    • , Xueying Mao
    • , Xin Guo
    • , Guomin Wang
    • , Zan Sun
    • , Graham G. Giles
    • , Melissa C. Southey
    • , Robert J. MacInnis
    • , Liesel M. FitzGerald
    • , Adam S. Kibel
    • , Bettina F. Drake
    • , Ana Vega
    • , Antonio Gómez-Caamaño
    • , Robert Szulkin
    • , Martin Eklund
    • , Manolis Kogevinas
    • , Javier Llorca
    • , Gemma Castaño-Vinyals
    • , Kathryn L. Penney
    • , Meir Stampfer
    • , Jong Y. Park
    • , Thomas A. Sellers
    • , Hui-Yi Lin
    • , Janet L. Stanford
    • , Cezary Cybulski
    • , Dominika Wokolorczyk
    • , Jan Lubinski
    • , Elaine A. Ostrander
    • , Milan S. Geybels
    • , Børge G. Nordestgaard
    • , Sune F. Nielsen
    • , Maren Weischer
    • , Rasmus Bisbjerg
    • , Martin Andreas Røder
    • , Peter Iversen
    • , Hermann Brenner
    • , Katarina Cuk
    • , Bernd Holleczek
    • , Christiane Maier
    • , Manuel Luedeke
    • , Thomas Schnoeller
    • , Jeri Kim
    • , Christopher J. Logothetis
    • , Esther M. John
    • , Manuel R. Teixeira
    • , Paula Paulo
    • , Marta Cardoso
    • , Susan L. Neuhausen
    • , Linda Steele
    • , Yuan Chun Ding
    • , Kim De Ruyck
    • , Gert De Meerleer
    • , Piet Ost
    • , Azad Razack
    • , Jasmine Lim
    • , Soo-Hwang Teo
    • , Daniel W. Lin
    • , Lisa F. Newcomb
    • , Davor Lessel
    • , Marija Gamulin
    • , Tomislav Kulis
    • , Radka Kaneva
    • , Nawaid Usmani
    • , Sandeep Singhal
    • , Chavdar Slavov
    • , Vanio Mitev
    • , Matthew Parliament
    • , Frank Claessens
    • , Steven Joniau
    • , Thomas Van den Broeck
    • , Samantha Larkin
    • , Paul A. Townsend
    • , Claire Aukim-Hastie
    • , Manuela Gago-Dominguez
    • , Jose Esteban Castelao
    • , Maria Elena Martinez
    • , Monique J. Roobol
    • , Guido Jenster
    • , Ron H. N. van Schaik
    • , Florence Menegaux
    • , Thérèse Truong
    • , Yves Akoli Koudou
    • , Jianfeng Xu
    • , Kay-Tee Khaw
    • , Lisa Cannon-Albright
    • , Hardev Pandha
    • , Agnieszka Michael
    • , Stephen N. Thibodeau
    • , Shannon K. McDonnell
    • , Daniel J. Schaid
    • , Sara Lindstrom
    • , Constance Turman
    • , Jing Ma
    • , David J. Hunter
    • , Elio Riboli
    • , Afshan Siddiq
    • , Federico Canzian
    • , Laurence N. Kolonel
    • , Loic Le Marchand
    • , Robert N. Hoover
    • , Mitchell J. Machiela
    • , Zuxi Cui
    • , Peter Kraft
    • , Christopher I. Amos
    • , David V. Conti
    • , Douglas F. Easton
    • , Fredrik Wiklund
    • , Stephen J. Chanock
    • , Brian E. Henderson
    • , Zsofia Kote-Jarai
    • , Christopher A. Haiman
    •  & Rosalind A. Eeles
  • Article |

    Genome-wide meta-analysis of clinically diagnosed Alzheimer’s disease (AD) and AD-by-proxy (71,880 AD cases, 383,378 controls) identifies new loci and functional pathways that contribute to AD risk.

    • Iris E. Jansen
    • , Jeanne E. Savage
    • , Kyoko Watanabe
    • , Julien Bryois
    • , Dylan M. Williams
    • , Stacy Steinberg
    • , Julia Sealock
    • , Ida K. Karlsson
    • , Sara Hägg
    • , Lavinia Athanasiu
    • , Nicola Voyle
    • , Petroula Proitsi
    • , Aree Witoelar
    • , Sven Stringer
    • , Dag Aarsland
    • , Ina S. Almdahl
    • , Fred Andersen
    • , Sverre Bergh
    • , Francesco Bettella
    • , Sigurbjorn Bjornsson
    • , Anne Brækhus
    • , Geir Bråthen
    • , Christiaan de Leeuw
    • , Rahul S. Desikan
    • , Srdjan Djurovic
    • , Logan Dumitrescu
    • , Tormod Fladby
    • , Timothy J. Hohman
    • , Palmi V. Jonsson
    • , Steven J. Kiddle
    • , Arvid Rongve
    • , Ingvild Saltvedt
    • , Sigrid B. Sando
    • , Geir Selbæk
    • , Maryam Shoai
    • , Nathan G. Skene
    • , Jon Snaedal
    • , Eystein Stordal
    • , Ingun D. Ulstein
    • , Yunpeng Wang
    • , Linda R. White
    • , John Hardy
    • , Jens Hjerling-Leffler
    • , Patrick F. Sullivan
    • , Wiesje M. van der Flier
    • , Richard Dobson
    • , Lea K. Davis
    • , Hreinn Stefansson
    • , Kari Stefansson
    • , Nancy L. Pedersen
    • , Stephan Ripke
    • , Ole A. Andreassen
    •  & Danielle Posthuma
  • Letter |

    GADD45A directly binds to R-loops and mediates local DNA demethylation by recruiting TET1. lncRNA-mediated formation of R-loops at the promoter of the tumor suppressor TCF21 triggers GADD45A binding, demethylation and expression.

    • Khelifa Arab
    • , Emil Karaulanov
    • , Michael Musheev
    • , Philipp Trnka
    • , Andrea Schäfer
    • , Ingrid Grummt
    •  & Christof Niehrs
  • Article |

    Genome-wide association analyses identify 301 new loci influencing bone mineral density and 13 loci influencing fracture risk. Integrative analyses of epigenomic data and mouse knockout phenotypes provide additional insights into osteoporosis pathophysiology.

    • John A. Morris
    • , John P. Kemp
    • , Scott E. Youlten
    • , Laetitia Laurent
    • , John G. Logan
    • , Ryan C. Chai
    • , Nicholas A. Vulpescu
    • , Vincenzo Forgetta
    • , Aaron Kleinman
    • , Sindhu T. Mohanty
    • , C. Marcelo Sergio
    • , Julian Quinn
    • , Loan Nguyen-Yamamoto
    • , Aimee-Lee Luco
    • , Jinchu Vijay
    • , Marie-Michelle Simon
    • , Albena Pramatarova
    • , Carolina Medina-Gomez
    • , Katerina Trajanoska
    • , Elena J. Ghirardello
    • , Natalie C. Butterfield
    • , Katharine F. Curry
    • , Victoria D. Leitch
    • , Penny C. Sparkes
    • , Anne-Tounsia Adoum
    • , Naila S. Mannan
    • , Davide S. K. Komla-Ebri
    • , Andrea S. Pollard
    • , Hannah F. Dewhurst
    • , Thomas A. D. Hassall
    • , Michael-John G. Beltejar
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , Nicholas A. Furlotte
    • , 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
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Douglas J. Adams
    • , Suzanne M. Vaillancourt
    • , Stephen Kaptoge
    • , Paul Baldock
    • , Cyrus Cooper
    • , Jonathan Reeve
    • , Evangelia E. Ntzani
    • , Evangelos Evangelou
    • , Claes Ohlsson
    • , David Karasik
    • , Fernando Rivadeneira
    • , Douglas P. Kiel
    • , Jonathan H. Tobias
    • , Celia L. Gregson
    • , Nicholas C. Harvey
    • , Elin Grundberg
    • , David Goltzman
    • , David J. Adams
    • , Christopher J. Lelliott
    • , David A. Hinds
    • , Cheryl L. Ackert-Bicknell
    • , Yi-Hsiang Hsu
    • , Matthew T. Maurano
    • , Peter I. Croucher
    • , Graham R. Williams
    • , J. H. Duncan Bassett
    • , David M. Evans
    •  & J. Brent Richards
  • Article |

    Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver for CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

    • Miguel Verbitsky
    • , Rik Westland
    • , Alejandra Perez
    • , Krzysztof Kiryluk
    • , Qingxue Liu
    • , Priya Krithivasan
    • , Adele Mitrotti
    • , David A. Fasel
    • , Ekaterina Batourina
    • , Matthew G. Sampson
    • , Monica Bodria
    • , Max Werth
    • , Charlly Kao
    • , Jeremiah Martino
    • , Valentina P. Capone
    • , Asaf Vivante
    • , Shirlee Shril
    • , Byum Hee Kil
    • , Maddalena Marasà
    • , Jun Y. Zhang
    • , Young-Ji Na
    • , Tze Y. Lim
    • , Dina Ahram
    • , Patricia L. Weng
    • , Erin L. Heinzen
    • , Alba Carrea
    • , Giorgio Piaggio
    • , Loreto Gesualdo
    • , Valeria Manca
    • , Giuseppe Masnata
    • , Maddalena Gigante
    • , Daniele Cusi
    • , Claudia Izzi
    • , Francesco Scolari
    • , Joanna A. E. van Wijk
    • , Marijan Saraga
    • , Domenico Santoro
    • , Giovanni Conti
    • , Pasquale Zamboli
    • , Hope White
    • , Dorota Drozdz
    • , Katarzyna Zachwieja
    • , Monika Miklaszewska
    • , Marcin Tkaczyk
    • , Daria Tomczyk
    • , Anna Krakowska
    • , Przemyslaw Sikora
    • , Tomasz Jarmoliński
    • , Maria K. Borszewska-Kornacka
    • , Robert Pawluch
    • , Maria Szczepanska
    • , Piotr Adamczyk
    • , Malgorzata Mizerska-Wasiak
    • , Grazyna Krzemien
    • , Agnieszka Szmigielska
    • , Marcin Zaniew
    • , Mark G. Dobson
    • , John M. Darlow
    • , Prem Puri
    • , David E. Barton
    • , Susan L. Furth
    • , Bradley A. Warady
    • , Zoran Gucev
    • , Vladimir J. Lozanovski
    • , Velibor Tasic
    • , Isabella Pisani
    • , Landino Allegri
    • , Lida M. Rodas
    • , Josep M. Campistol
    • , Cécile Jeanpierre
    • , Shumyle Alam
    • , Pasquale Casale
    • , Craig S. Wong
    • , Fangming Lin
    • , Débora M. Miranda
    • , Eduardo A. Oliveira
    • , Ana Cristina Simões-e-Silva
    • , Jonathan M. Barasch
    • , Brynn Levy
    • , Nan Wu
    • , Friedhelm Hildebrandt
    • , Gian Marco Ghiggeri
    • , Anna Latos-Bielenska
    • , Anna Materna-Kiryluk
    • , Feng Zhang
    • , Hakon Hakonarson
    • , Virginia E. Papaioannou
    • , Cathy L. Mendelsohn
    • , Ali G. Gharavi
    •  & Simone Sanna-Cherchi
  • Article |

    Analysis of blood pressure data from the Million Veteran Program trans-ethnic cohort identifies common and rare variants, and genetically predicted gene expression across multiple tissues associated with systolic, diastolic and pulse pressure in over 775,000 individuals.

    • Ayush Giri
    • , Jacklyn N. Hellwege
    • , Jacob M. Keaton
    • , Jihwan Park
    • , Chengxiang Qiu
    • , Helen R. Warren
    • , Eric S. Torstenson
    • , Csaba P. Kovesdy
    • , Yan V. Sun
    • , Otis D. Wilson
    • , Cassianne Robinson-Cohen
    • , Christianne L. Roumie
    • , Cecilia P. Chung
    • , Kelly A. Birdwell
    • , Scott M. Damrauer
    • , Scott L. DuVall
    • , Derek Klarin
    • , Kelly Cho
    • , Yu Wang
    • , Evangelos Evangelou
    • , Claudia P. Cabrera
    • , Louise V. Wain
    • , Rojesh Shrestha
    • , Brian S. Mautz
    • , Elvis A. Akwo
    • , Muralidharan Sargurupremraj
    • , Stéphanie Debette
    • , Michael Boehnke
    • , Laura J. Scott
    • , Jian’an Luan
    • , Jing-Hua Zhao
    • , Sara M. Willems
    • , Sébastien Thériault
    • , Nabi Shah
    • , Christopher Oldmeadow
    • , Peter Almgren
    • , Ruifang Li-Gao
    • , Niek Verweij
    • , Thibaud S. Boutin
    • , Massimo Mangino
    • , Ioanna Ntalla
    • , Elena Feofanova
    • , Praveen Surendran
    • , James P. Cook
    • , Savita Karthikeyan
    • , Najim Lahrouchi
    • , Chunyu Liu
    • , Nuno Sepúlveda
    • , Tom G. Richardson
    • , Aldi Kraja
    • , Philippe Amouyel
    • , Martin Farrall
    • , Neil R. Poulter
    • , Markku Laakso
    • , Eleftheria Zeggini
    • , Peter Sever
    • , Robert A. Scott
    • , Claudia Langenberg
    • , Nicholas J. Wareham
    • , David Conen
    • , Colin Neil Alexander Palmer
    • , John Attia
    • , Daniel I. Chasman
    • , Paul M. Ridker
    • , Olle Melander
    • , Dennis Owen Mook-Kanamori
    • , Pim van der Harst
    • , Francesco Cucca
    • , David Schlessinger
    • , Caroline Hayward
    • , Tim D. Spector
    • , Marjo-Riitta Jarvelin
    • , Branwen J. Hennig
    • , Nicholas J. Timpson
    • , Wei-Qi Wei
    • , Joshua C. Smith
    • , Yaomin Xu
    • , Michael E. Matheny
    • , Edward E. Siew
    • , Cecilia Lindgren
    • , Karl-Heinz Herzig
    • , George Dedoussis
    • , Joshua C. Denny
    • , Bruce M. Psaty
    • , Joanna M. M. Howson
    • , Patricia B. Munroe
    • , Christopher Newton-Cheh
    • , Mark J. Caulfield
    • , Paul Elliott
    • , J. Michael Gaziano
    • , John Concato
    • , Peter W. F. Wilson
    • , Philip S. Tsao
    • , Digna R. Velez Edwards
    • , Katalin Susztak
    • , Christopher J. O’Donnell
    • , Adriana M. Hung
    •  & Todd L. Edwards
  • Article |

    Analysis of ~10,000 cases of developmental delay and autism identifies 253 candidate neurodevelopmental disease genes. Network analysis highlights cell-specific enrichments of disease-related genes in the D1+ and D2+ spiny neurons of the striatum.

    • Bradley P. Coe
    • , Holly A. F. Stessman
    • , Arvis Sulovari
    • , Madeleine R. Geisheker
    • , Trygve E. Bakken
    • , Allison M. Lake
    • , Joseph D. Dougherty
    • , Ed S. Lein
    • , Fereydoun Hormozdiari
    • , Raphael A. Bernier
    •  & Evan E. Eichler
  • Letter |

    Activating HER2 mutations are shown to confer resistance to ER-directed therapies in patients with ER+ metastatic breast cancer. Drug resistance caused by HER2 mutations was overcome by combining ER-directed therapy with a HER2 kinase inhibitor.

    • Utthara Nayar
    • , Ofir Cohen
    • , Christian Kapstad
    • , Michael S. Cuoco
    • , Adrienne G. Waks
    • , Seth A. Wander
    • , Corrie Painter
    • , Samuel Freeman
    • , Nicole S. Persky
    • , Lori Marini
    • , Karla Helvie
    • , Nelly Oliver
    • , Orit Rozenblatt-Rosen
    • , Cynthia X. Ma
    • , Aviv Regev
    • , Eric P. Winer
    • , Nancy U. Lin
    •  & Nikhil Wagle
  • Article |

    This study leverages coding variation observed among 123,136 individuals to create a detailed map of constrained coding regions in the human genome. This map may help identify critical regions within genes that, when mutated, cause embryonic lethality or severe developmental phenotypes.

    • James M. Havrilla
    • , Brent S. Pedersen
    • , Ryan M. Layer
    •  & Aaron R. Quinlan
  • Article |

    This study shows that immune-related genes are primed for transcription by proximal lncRNAs. One such lncRNA, UMLILO, directs the WDR5–MLL1 complex to CXCL chemokine promoters, facilitating H3K4me3 deposition.

    • Stephanie Fanucchi
    • , Ezio T. Fok
    • , Emiliano Dalla
    • , Youtaro Shibayama
    • , Kathleen Börner
    • , Erin Y. Chang
    • , Stoyan Stoychev
    • , Maxim Imakaev
    • , Dirk Grimm
    • , Kevin C. Wang
    • , Guoliang Li
    • , Wing-Kin Sung
    •  & Musa M. Mhlanga
  • Letter |

    Analysis of mutational asymmetry with respect to the direction of replication and transcription suggests that error-prone damage bypass on the lagging strand has a major role in human germline and cancer mutations.

    • Vladimir B. Seplyarskiy
    • , Evgeny E. Akkuratov
    • , Natalia Akkuratova
    • , Maria A. Andrianova
    • , Sergey I. Nikolaev
    • , Georgii A. Bazykin
    • , Igor Adameyko
    •  & Shamil R. Sunyaev
  • Brief Communication |

    The long noncoding RNA SCHLAP1 has been reported to act by depleting the SWI/SNF complex from genomic sites, but new data show that SWI/SNF remains localized to chromatin in the presence of SCHLAP1, suggesting that SCHLAP1 may act independently of SWI/SNF.

    • Jesse R. Raab
    • , Keriayn N. Smith
    • , Camarie C. Spear
    • , Carl J. Manner
    • , J. Mauro Calabrese
    •  & Terry Magnuson
  • Analysis |

    Including patient-specific information about nearby somatic and germline alterations improves the accuracy of neoantigen prediction, potentially impacting cancer vaccine design.

    • Jasreet Hundal
    • , Susanna Kiwala
    • , Yang-Yang Feng
    • , Connor J. Liu
    • , Ramaswamy Govindan
    • , William C. Chapman
    • , Ravindra Uppaluri
    • , S. Joshua Swamidass
    • , Obi L. Griffith
    • , Elaine R. Mardis
    •  & Malachi Griffith
  • Letter | | open

    The improved genome assemblies of allotetraploid cotton species Gossypium hirsutum and Gossypium barbadense provide insights into cotton evolution and inform the construction of introgression lines used to identify loci associated with fiber quality.

    • Maojun Wang
    • , Lili Tu
    • , Daojun Yuan
    • , De Zhu
    • , Chao Shen
    • , Jianying Li
    • , Fuyan Liu
    • , Liuling Pei
    • , Pengcheng Wang
    • , Guannan Zhao
    • , Zhengxiu Ye
    • , Hui Huang
    • , Feilin Yan
    • , Yizan Ma
    • , Lin Zhang
    • , Min Liu
    • , Jiaqi You
    • , Yicheng Yang
    • , Zhenping Liu
    • , Fan Huang
    • , Baoqi Li
    • , Ping Qiu
    • , Qinghua Zhang
    • , Longfu Zhu
    • , Shuangxia Jin
    • , Xiyan Yang
    • , Ling Min
    • , Guoliang Li
    • , Ling-Ling Chen
    • , Hongkun Zheng
    • , Keith Lindsey
    • , Zhongxu Lin
    • , Joshua A. Udall
    •  & Xianlong Zhang
  • Article |

    Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

    • Jeroen R. Huyghe
    • , Stephanie A. Bien
    • , Tabitha A. Harrison
    • , Hyun Min Kang
    • , Sai Chen
    • , Stephanie L. Schmit
    • , David V. Conti
    • , Conghui Qu
    • , Jihyoun Jeon
    • , Christopher K. Edlund
    • , Peyton Greenside
    • , Michael Wainberg
    • , Fredrick R. Schumacher
    • , Joshua D. Smith
    • , David M. Levine
    • , Sarah C. Nelson
    • , Nasa A. Sinnott-Armstrong
    • , Demetrius Albanes
    • , M. Henar Alonso
    • , Kristin Anderson
    • , Coral Arnau-Collell
    • , Volker Arndt
    • , Christina Bamia
    • , Barbara L. Banbury
    • , John A. Baron
    • , Sonja I. Berndt
    • , Stéphane Bézieau
    • , D. Timothy Bishop
    • , Juergen Boehm
    • , Heiner Boeing
    • , Hermann Brenner
    • , Stefanie Brezina
    • , Stephan Buch
    • , Daniel D. Buchanan
    • , Andrea Burnett-Hartman
    • , Katja Butterbach
    • , Bette J. Caan
    • , Peter T. Campbell
    • , Christopher S. Carlson
    • , Sergi Castellví-Bel
    • , Andrew T. Chan
    • , Jenny Chang-Claude
    • , Stephen J. Chanock
    • , Maria-Dolores Chirlaque
    • , Sang Hee Cho
    • , Charles M. Connolly
    • , Amanda J. Cross
    • , Katarina Cuk
    • , Keith R. Curtis
    • , Albert de la Chapelle
    • , Kimberly F. Doheny
    • , David Duggan
    • , Douglas F. Easton
    • , Sjoerd G. Elias
    • , Faye Elliott
    • , Dallas R. English
    • , Edith J. M. Feskens
    • , Jane C. Figueiredo
    • , Rocky Fischer
    • , Liesel M. FitzGerald
    • , David Forman
    • , Manish Gala
    • , Steven Gallinger
    • , W. James Gauderman
    • , Graham G. Giles
    • , Elizabeth Gillanders
    • , Jian Gong
    • , Phyllis J. Goodman
    • , William M. Grady
    • , John S. Grove
    • , Andrea Gsur
    • , Marc J. Gunter
    • , Robert W. Haile
    • , Jochen Hampe
    • , Heather Hampel
    • , Sophia Harlid
    • , Richard B. Hayes
    • , Philipp Hofer
    • , Michael Hoffmeister
    • , John L. Hopper
    • , Wan-Ling Hsu
    • , Wen-Yi Huang
    • , Thomas J. Hudson
    • , David J. Hunter
    • , Gemma Ibañez-Sanz
    • , Gregory E. Idos
    • , Roxann Ingersoll
    • , Rebecca D. Jackson
    • , Eric J. Jacobs
    • , Mark A. Jenkins
    • , Amit D. Joshi
    • , Corinne E. Joshu
    • , Temitope O. Keku
    • , Timothy J. Key
    • , Hyeong Rok Kim
    • , Emiko Kobayashi
    • , Laurence N. Kolonel
    • , Charles Kooperberg
    • , Tilman Kühn
    • , Sébastien Küry
    • , Sun-Seog Kweon
    • , Susanna C. Larsson
    • , Cecelia A. Laurie
    • , Loic Le Marchand
    • , Suzanne M. Leal
    • , Soo Chin Lee
    • , Flavio Lejbkowicz
    • , Mathieu Lemire
    • , Christopher I. Li
    • , Li Li
    • , Wolfgang Lieb
    • , Yi Lin
    • , Annika Lindblom
    • , Noralane M. Lindor
    • , Hua Ling
    • , Tin L. Louie
    • , Satu Männistö
    • , Sanford D. Markowitz
    • , Vicente Martín
    • , Giovanna Masala
    • , Caroline E. McNeil
    • , Marilena Melas
    • , Roger L. Milne
    • , Lorena Moreno
    • , Neil Murphy
    • , Robin Myte
    • , Alessio Naccarati
    • , Polly A. Newcomb
    • , Kenneth Offit
    • , Shuji Ogino
    • , N. Charlotte Onland-Moret
    • , Barbara Pardini
    • , Patrick S. Parfrey
    • , Rachel Pearlman
    • , Vittorio Perduca
    • , Paul D. P. Pharoah
    • , Mila Pinchev
    • , Elizabeth A. Platz
    • , Ross L. Prentice
    • , Elizabeth Pugh
    • , Leon Raskin
    • , Gad Rennert
    • , Hedy S. Rennert
    • , Elio Riboli
    • , Miguel Rodríguez-Barranco
    • , Jane Romm
    • , Lori C. Sakoda
    • , Clemens Schafmayer
    • , Robert E. Schoen
    • , Daniela Seminara
    • , Mitul Shah
    • , Tameka Shelford
    • , Min-Ho Shin
    • , Katerina Shulman
    • , Sabina Sieri
    • , Martha L. Slattery
    • , Melissa C. Southey
    • , Zsofia K. Stadler
    • , Christa Stegmaier
    • , Yu-Ru Su
    • , Catherine M. Tangen
    • , Stephen N. Thibodeau
    • , Duncan C. Thomas
    • , Sushma S. Thomas
    • , Amanda E. Toland
    • , Antonia Trichopoulou
    • , Cornelia M. Ulrich
    • , David J. Van Den Berg
    • , Franzel J. B. van Duijnhoven
    • , Bethany Van Guelpen
    • , Henk van Kranen
    • , Joseph Vijai
    • , Kala Visvanathan
    • , Pavel Vodicka
    • , Ludmila Vodickova
    • , Veronika Vymetalkova
    • , Korbinian Weigl
    • , Stephanie J. Weinstein
    • , Emily White
    • , Aung Ko Win
    • , C. Roland Wolf
    • , Alicja Wolk
    • , Michael O. Woods
    • , Anna H. Wu
    • , Syed H. Zaidi
    • , Brent W. Zanke
    • , Qing Zhang
    • , Wei Zheng
    • , Peter C. Scacheri
    • , John D. Potter
    • , Michael C. Bassik
    • , Anshul Kundaje
    • , Graham Casey
    • , Victor Moreno
    • , Goncalo R. Abecasis
    • , Deborah A. Nickerson
    • , Stephen B. Gruber
    • , Li Hsu
    •  & Ulrike Peters
  • Article |

    Gain-of-function mutations altering the PWWP domain of DNMT3A are identified as a new cause of microcephalic dwarfism. These mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions.

    • Patricia Heyn
    • , Clare V. Logan
    • , Adeline Fluteau
    • , Rachel C. Challis
    • , Tatsiana Auchynnikava
    • , Carol-Anne Martin
    • , Joseph A. Marsh
    • , Francesca Taglini
    • , Fiona Kilanowski
    • , David A. Parry
    • , Valerie Cormier-Daire
    • , Chin-To Fong
    • , Kate Gibson
    • , Vivian Hwa
    • , Lourdes Ibáñez
    • , Stephen P. Robertson
    • , Giorgia Sebastiani
    • , Juri Rappsilber
    • , Robin C. Allshire
    • , Martin A. M. Reijns
    • , Andrew Dauber
    • , Duncan Sproul
    •  & Andrew P. Jackson