Browse Articles

  • Letter |

    Chromosomal inversions at the mimicry locus of Heliconius numata butterflies accumulate deleterious variants. This leads to selection against homozygosity, in opposition to positive selection for mimicry, resulting in intermediate allele frequency.

    • Paul Jay
    • , Mathieu Chouteau
    • , Annabel Whibley
    • , Héloïse Bastide
    • , Hugues Parrinello
    • , Violaine Llaurens
    •  & Mathieu Joron
  • Letter |

    Genome-wide analyses identify multiple loci associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular (LV) traits. Cardiomyopathies exhibit strong genetic correlations with LV traits, with opposing effects in HCM and DCM.

    • Rafik Tadros
    • , Catherine Francis
    • , Xiao Xu
    • , Alexa M. C. Vermeer
    • , Andrew R. Harper
    • , Roy Huurman
    • , Ken Kelu Bisabu
    • , Roddy Walsh
    • , Edgar T. Hoorntje
    • , Wouter P. te Rijdt
    • , Rachel J. Buchan
    • , Hannah G. van Velzen
    • , Marjon A. van Slegtenhorst
    • , Jentien M. Vermeulen
    • , Joost Allard Offerhaus
    • , Wenjia Bai
    • , Antonio de Marvao
    • , Najim Lahrouchi
    • , Leander Beekman
    • , Jacco C. Karper
    • , Jan H. Veldink
    • , Elham Kayvanpour
    • , Antonis Pantazis
    • , A. John Baksi
    • , Nicola Whiffin
    • , Francesco Mazzarotto
    • , Geraldine Sloane
    • , Hideaki Suzuki
    • , Deborah Schneider-Luftman
    • , Paul Elliott
    • , Pascale Richard
    • , Flavie Ader
    • , Eric Villard
    • , Peter Lichtner
    • , Thomas Meitinger
    • , Michael W. T. Tanck
    • , J. Peter van Tintelen
    • , Andrew Thain
    • , David McCarty
    • , Robert A. Hegele
    • , Jason D. Roberts
    • , Julie Amyot
    • , Marie-Pierre Dubé
    • , Julia Cadrin-Tourigny
    • , Geneviève Giraldeau
    • , Philippe L. L’Allier
    • , Patrick Garceau
    • , Jean-Claude Tardif
    • , S. Matthijs Boekholdt
    • , R. Thomas Lumbers
    • , Folkert W. Asselbergs
    • , Paul J. R. Barton
    • , Stuart A. Cook
    • , Sanjay K. Prasad
    • , Declan P. O’Regan
    • , Jolanda van der Velden
    • , Karin J. H. Verweij
    • , Mario Talajic
    • , Guillaume Lettre
    • , Yigal M. Pinto
    • , Benjamin Meder
    • , Philippe Charron
    • , Rudolf A. de Boer
    • , Imke Christiaans
    • , Michelle Michels
    • , Arthur A. M. Wilde
    • , Hugh Watkins
    • , Paul M. Matthews
    • , James S. Ware
    •  & Connie R. Bezzina
  • Letter |

    Genome-wide association analyses identify 12 susceptibility loci for hypertrophic cardiomyopathy (HCM). A genetic risk score for HCM was associated with disease status in a validation study and influenced phenotypic severity in carriers of risk variants in sarcomere genes.

    • Andrew R. Harper
    • , Anuj Goel
    • , Christopher Grace
    • , Kate L. Thomson
    • , Steffen E. Petersen
    • , Xiao Xu
    • , Adam Waring
    • , Elizabeth Ormondroyd
    • , Christopher M. Kramer
    • , Carolyn Y. Ho
    • , Stefan Neubauer
    • , Paul Kolm
    • , Raymond Kwong
    • , Sarahfaye F. Dolman
    • , Patrice Desvigne-Nickens
    • , John P. Dimarco
    • , Nancy Geller
    • , Dong-Yun Kim
    • , Cheng Zhang
    • , William Weintraub
    • , Theodore Abraham
    • , Lisa Anderson
    • , Evan Appelbaum
    • , Camillo Autore
    • , Colin Berry
    • , Elena Biagini
    • , William Bradlow
    • , Chiara Bucciarelli-Ducci
    • , Amedeo Chiribiri
    • , Lubna Choudhury
    • , Andrew Crean
    • , Dana Dawson
    • , Milind Y. Desai
    • , Eleanor Elstein
    • , Andrew Flett
    • , Matthias Friedrich
    • , Stephen Heitner
    • , Adam Helms
    • , Daniel L. Jacoby
    • , Han Kim
    • , Bette Kim
    • , Eric Larose
    • , Masliza Mahmod
    • , Heiko Mahrholdt
    • , Martin Maron
    • , Gerry McCann
    • , Michelle Michels
    • , Saidi Mohiddin
    • , Sherif Nagueh
    • , David Newby
    • , Iacopo Olivotto
    • , Anjali Owens
    • , F. Pierre-Mongeon
    • , Sanjay Prasad
    • , Ornella Rimoldi
    • , Michael Salerno
    • , Jeanette Schulz-Menger
    • , Mark Sherrid
    • , Peter Swoboda
    • , Albert van Rossum
    • , Jonathan Weinsaft
    • , James White
    • , Eric Williamson
    • , Rafik Tadros
    • , James S. Ware
    • , Connie R. Bezzina
    • , Martin Farrall
    •  & Hugh Watkins
  • Publisher Correction |

    • David V. Conti
    • , Burcu F. Darst
    • , Lilit C. Moss
    • , Edward J. Saunders
    • , Xin Sheng
    • , Alisha Chou
    • , Fredrick R. Schumacher
    • , Ali Amin Al Olama
    • , Sara Benlloch
    • , Tokhir Dadaev
    • , Mark N. Brook
    • , Ali Sahimi
    • , Thomas J. Hoffmann
    • , Atushi Takahashi
    • , Koichi Matsuda
    • , Yukihide Momozawa
    • , Masashi Fujita
    • , Kenneth Muir
    • , Artitaya Lophatananon
    • , Peggy Wan
    • , Loic Le Marchand
    • , Lynne R. Wilkens
    • , Victoria L. Stevens
    • , Susan M. Gapstur
    • , Brian D. Carter
    • , Johanna Schleutker
    • , Teuvo L. J. Tammela
    • , Csilla Sipeky
    • , Anssi Auvinen
    • , Graham G. Giles
    • , Melissa C. Southey
    • , Robert J. MacInnis
    • , Cezary Cybulski
    • , Dominika Wokołorczyk
    • , Jan Lubiński
    • , David E. Neal
    • , Jenny L. Donovan
    • , Freddie C. Hamdy
    • , Richard M. Martin
    • , Børge G. Nordestgaard
    • , Sune F. Nielsen
    • , Maren Weischer
    • , Stig E. Bojesen
    • , Martin Andreas Røder
    • , Peter Iversen
    • , Jyotsna Batra
    • , Suzanne Chambers
    • , Leire Moya
    • , Lisa Horvath
    • , Judith A. Clements
    • , Wayne Tilley
    • , Gail P. Risbridger
    • , Henrik Gronberg
    • , Markus Aly
    • , Robert Szulkin
    • , Martin Eklund
    • , Tobias Nordström
    • , Nora Pashayan
    • , Alison M. Dunning
    • , Maya Ghoussaini
    • , Ruth C. Travis
    • , Tim J. Key
    • , Elio Riboli
    • , Jong Y. Park
    • , Thomas A. Sellers
    • , Hui-Yi Lin
    • , Demetrius Albanes
    • , Stephanie J. Weinstein
    • , Lorelei A. Mucci
    • , Edward Giovannucci
    • , Sara Lindstrom
    • , Peter Kraft
    • , David J. Hunter
    • , Kathryn L. Penney
    • , Constance Turman
    • , Catherine M. Tangen
    • , Phyllis J. Goodman
    • , Ian M. Thompson Jr.
    • , Robert J. Hamilton
    • , Neil E. Fleshner
    • , Antonio Finelli
    • , Marie-Élise Parent
    • , Janet L. Stanford
    • , Elaine A. Ostrander
    • , Milan S. Geybels
    • , Stella Koutros
    • , Laura E. Beane Freeman
    • , Meir Stampfer
    • , Alicja Wolk
    • , Niclas Håkansson
    • , Gerald L. Andriole
    • , Robert N. Hoover
    • , Mitchell J. Machiela
    • , Karina Dalsgaard Sørensen
    • , Michael Borre
    • , William J. Blot
    • , Wei Zheng
    • , Edward D. Yeboah
    • , James E. Mensah
    • , Yong-Jie Lu
    • , Hong-Wei Zhang
    • , Ninghan Feng
    • , Xueying Mao
    • , Yudong Wu
    • , Shan-Chao Zhao
    • , Zan Sun
    • , Stephen N. Thibodeau
    • , Shannon K. McDonnell
    • , Daniel J. Schaid
    • , Catharine M. L. West
    • , Neil Burnet
    • , Gill Barnett
    • , Christiane Maier
    • , Thomas Schnoeller
    • , Manuel Luedeke
    • , Adam S. Kibel
    • , Bettina F. Drake
    • , Olivier Cussenot
    • , Géraldine Cancel-Tassin
    • , Florence Menegaux
    • , Thérèse Truong
    • , Yves Akoli Koudou
    • , Esther M. John
    • , Eli Marie Grindedal
    • , Lovise Maehle
    • , Kay-Tee Khaw
    • , Sue A. Ingles
    • , Mariana C. Stern
    • , Ana Vega
    • , Antonio Gómez-Caamaño
    • , Laura Fachal
    • , Barry S. Rosenstein
    • , Sarah L. Kerns
    • , Harry Ostrer
    • , Manuel R. Teixeira
    • , Paula Paulo
    • , Andreia Brandão
    • , Stephen Watya
    • , Alexander Lubwama
    • , Jeannette T. Bensen
    • , Elizabeth T. H. Fontham
    • , James Mohler
    • , Jack A. Taylor
    • , Manolis Kogevinas
    • , Javier Llorca
    • , Gemma Castaño-Vinyals
    • , Lisa Cannon-Albright
    • , Craig C. Teerlink
    • , Chad D. Huff
    • , Sara S. Strom
    • , Luc Multigner
    • , Pascal Blanchet
    • , Laurent Brureau
    • , Radka Kaneva
    • , Chavdar Slavov
    • , Vanio Mitev
    • , Robin J. Leach
    • , Brandi Weaver
    • , Hermann Brenner
    • , Katarina Cuk
    • , Bernd Holleczek
    • , Kai-Uwe Saum
    • , Eric A. Klein
    • , Ann W. Hsing
    • , Rick A. Kittles
    • , Adam B. Murphy
    • , Christopher J. Logothetis
    • , Jeri Kim
    • , Susan L. Neuhausen
    • , Linda Steele
    • , Yuan Chun Ding
    • , William B. Isaacs
    • , Barbara Nemesure
    • , Anselm J. M. Hennis
    • , John Carpten
    • , Hardev Pandha
    • , Agnieszka Michael
    • , Kim De Ruyck
    • , Gert De Meerleer
    • , Piet Ost
    • , Jianfeng Xu
    • , Azad Razack
    • , Jasmine Lim
    • , Soo-Hwang Teo
    • , Lisa F. Newcomb
    • , Daniel W. Lin
    • , Jay H. Fowke
    • , Christine Neslund-Dudas
    • , Benjamin A. Rybicki
    • , Marija Gamulin
    • , Davor Lessel
    • , Tomislav Kulis
    • , Nawaid Usmani
    • , Sandeep Singhal
    • , Matthew Parliament
    • , Frank Claessens
    • , Steven Joniau
    • , Thomas Van den Broeck
    • , Manuela Gago-Dominguez
    • , Jose Esteban Castelao
    • , Maria Elena Martinez
    • , Samantha Larkin
    • , Paul A. Townsend
    • , Claire Aukim-Hastie
    • , William S. Bush
    • , Melinda C. Aldrich
    • , Dana C. Crawford
    • , Shiv Srivastava
    • , Jennifer C. Cullen
    • , Gyorgy Petrovics
    • , Graham Casey
    • , Monique J. Roobol
    • , Guido Jenster
    • , Ron H. N. van Schaik
    • , Jennifer J. Hu
    • , Maureen Sanderson
    • , Rohit Varma
    • , Roberta McKean-Cowdin
    • , Mina Torres
    • , Nicholas Mancuso
    • , Sonja I. Berndt
    • , Stephen K. Van Den Eeden
    • , Douglas F. Easton
    • , Stephen J. Chanock
    • , Michael B. Cook
    • , Fredrik Wiklund
    • , Hidewaki Nakagawa
    • , John S. Witte
    • , Rosalind A. Eeles
    • , Zsofia Kote-Jarai
    •  & Christopher A. Haiman
  • Article |

    Genetic analysis of 35 blood and urine laboratory measurements from 363,228 individuals identifies 1,857 loci associated with at least one laboratory value.

    • Nasa Sinnott-Armstrong
    • , Yosuke Tanigawa
    • , David Amar
    • , Nina Mars
    • , Christian Benner
    • , Matthew Aguirre
    • , Guhan Ram Venkataraman
    • , Michael Wainberg
    • , Hanna M. Ollila
    • , Tuomo Kiiskinen
    • , Aki S. Havulinna
    • , James P. Pirruccello
    • , Junyang Qian
    • , Anna Shcherbina
    • , Fatima Rodriguez
    • , Themistocles L. Assimes
    • , Vineeta Agarwala
    • , Robert Tibshirani
    • , Trevor Hastie
    • , Samuli Ripatti
    • , Jonathan K. Pritchard
    • , Mark J. Daly
    •  & Manuel A. Rivas
  • Article |

    Analysis of human genotypes and 16S microbiome data of 18,473 individuals from 25 cohorts through a genome-wide association study, a phenome-wide association study and Mendelian randomization identifies host genetic and microbial trait associations.

    • Alexander Kurilshikov
    • , Carolina Medina-Gomez
    • , Rodrigo Bacigalupe
    • , Djawad Radjabzadeh
    • , Jun Wang
    • , Ayse Demirkan
    • , Caroline I. Le Roy
    • , Juan Antonio Raygoza Garay
    • , Casey T. Finnicum
    • , Xingrong Liu
    • , Daria V. Zhernakova
    • , Marc Jan Bonder
    • , Tue H. Hansen
    • , Fabian Frost
    • , Malte C. Rühlemann
    • , Williams Turpin
    • , Jee-Young Moon
    • , Han-Na Kim
    • , Kreete Lüll
    • , Elad Barkan
    • , Shiraz A. Shah
    • , Myriam Fornage
    • , Joanna Szopinska-Tokov
    • , Zachary D. Wallen
    • , Dmitrii Borisevich
    • , Lars Agreus
    • , Anna Andreasson
    • , Corinna Bang
    • , Larbi Bedrani
    • , Jordana T. Bell
    • , Hans Bisgaard
    • , Michael Boehnke
    • , Dorret I. Boomsma
    • , Robert D. Burk
    • , Annique Claringbould
    • , Kenneth Croitoru
    • , Gareth E. Davies
    • , Cornelia M. van Duijn
    • , Liesbeth Duijts
    • , Gwen Falony
    • , Jingyuan Fu
    • , Adriaan van der Graaf
    • , Torben Hansen
    • , Georg Homuth
    • , David A. Hughes
    • , Richard G. Ijzerman
    • , Matthew A. Jackson
    • , Vincent W. V. Jaddoe
    • , Marie Joossens
    • , Torben Jørgensen
    • , Daniel Keszthelyi
    • , Rob Knight
    • , Markku Laakso
    • , Matthias Laudes
    • , Lenore J. Launer
    • , Wolfgang Lieb
    • , Aldons J. Lusis
    • , Ad A. M. Masclee
    • , Henriette A. Moll
    • , Zlatan Mujagic
    • , Qi Qibin
    • , Daphna Rothschild
    • , Hocheol Shin
    • , Søren J. Sørensen
    • , Claire J. Steves
    • , Jonathan Thorsen
    • , Nicholas J. Timpson
    • , Raul Y. Tito
    • , Sara Vieira-Silva
    • , Uwe Völker
    • , Henry Völzke
    • , Urmo Võsa
    • , Kaitlin H. Wade
    • , Susanna Walter
    • , Kyoko Watanabe
    • , Stefan Weiss
    • , Frank U. Weiss
    • , Omer Weissbrod
    • , Harm-Jan Westra
    • , Gonneke Willemsen
    • , Haydeh Payami
    • , Daisy M. A. E. Jonkers
    • , Alejandro Arias Vasquez
    • , Eco J. C. de Geus
    • , Katie A. Meyer
    • , Jakob Stokholm
    • , Eran Segal
    • , Elin Org
    • , Cisca Wijmenga
    • , Hyung-Lae Kim
    • , Robert C. Kaplan
    • , Tim D. Spector
    • , Andre G. Uitterlinden
    • , Fernando Rivadeneira
    • , Andre Franke
    • , Markus M. Lerch
    • , Lude Franke
    • , Serena Sanna
    • , Mauro D’Amato
    • , Oluf Pedersen
    • , Andrew D. Paterson
    • , Robert Kraaij
    • , Jeroen Raes
    •  & Alexandra Zhernakova
  • Letter |

    Genome-wide association analysis of 8,956 German individuals identifies 38 genetic loci associated with single bacteria and overall microbiome composition.

    • Malte Christoph Rühlemann
    • , Britt Marie Hermes
    • , Corinna Bang
    • , Shauni Doms
    • , Lucas Moitinho-Silva
    • , Louise Bruun Thingholm
    • , Fabian Frost
    • , Frauke Degenhardt
    • , Michael Wittig
    • , Jan Kässens
    • , Frank Ulrich Weiss
    • , Annette Peters
    • , Klaus Neuhaus
    • , Uwe Völker
    • , Henry Völzke
    • , Georg Homuth
    • , Stefan Weiss
    • , Harald Grallert
    • , Matthias Laudes
    • , Wolfgang Lieb
    • , Dirk Haller
    • , Markus M. Lerch
    • , John F. Baines
    •  & Andre Franke
  • Article |

    Tractor is a statistical framework that facilitates the inclusion of admixed individuals in association studies by leveraging local ancestry. Tractor generates accurate ancestry-specific effect-size estimates and improves the resolution of association signals.

    • Elizabeth G. Atkinson
    • , Adam X. Maihofer
    • , Masahiro Kanai
    • , Alicia R. Martin
    • , Konrad J. Karczewski
    • , Marcos L. Santoro
    • , Jacob C. Ulirsch
    • , Yoichiro Kamatani
    • , Yukinori Okada
    • , Hilary K. Finucane
    • , Karestan C. Koenen
    • , Caroline M. Nievergelt
    • , Mark J. Daly
    •  & Benjamin M. Neale
  • Author Correction |

    • Sheng Chih Jin
    • , Sara A. Lewis
    • , Somayeh Bakhtiari
    • , Xue Zeng
    • , Michael C. Sierant
    • , Sheetal Shetty
    • , Sandra M. Nordlie
    • , Aureliane Elie
    • , Mark A. Corbett
    • , Bethany Y. Norton
    • , Clare L. van Eyk
    • , Shozeb Haider
    • , Brandon S. Guida
    • , Helen Magee
    • , James Liu
    • , Stephen Pastore
    • , John B. Vincent
    • , Janice Brunstrom-Hernandez
    • , Antigone Papavasileiou
    • , Michael C. Fahey
    • , Jesia G. Berry
    • , Kelly Harper
    • , Chongchen Zhou
    • , Junhui Zhang
    • , Boyang Li
    • , Hongyu Zhao
    • , Jennifer Heim
    • , Dani L. Webber
    • , Mahalia S. B. Frank
    • , Lei Xia
    • , Yiran Xu
    • , Dengna Zhu
    • , Bohao Zhang
    • , Amar H. Sheth
    • , James R. Knight
    • , Christopher Castaldi
    • , Irina R. Tikhonova
    • , Francesc López-Giráldez
    • , Boris Keren
    • , Sandra Whalen
    • , Julien Buratti
    • , Diane Doummar
    • , Megan Cho
    • , Kyle Retterer
    • , Francisca Millan
    • , Yangong Wang
    • , Jeff L. Waugh
    • , Lance Rodan
    • , Julie S. Cohen
    • , Ali Fatemi
    • , Angela E. Lin
    • , John P. Phillips
    • , Timothy Feyma
    • , Suzanna C. MacLennan
    • , Spencer Vaughan
    • , Kylie E. Crompton
    • , Susan M. Reid
    • , Dinah S. Reddihough
    • , Qing Shang
    • , Chao Gao
    • , Iona Novak
    • , Nadia Badawi
    • , Yana A. Wilson
    • , Sarah J. McIntyre
    • , Shrikant M. Mane
    • , Xiaoyang Wang
    • , David J. Amor
    • , Daniela C. Zarnescu
    • , Qiongshi Lu
    • , Qinghe Xing
    • , Changlian Zhu
    • , Kaya Bilguvar
    • , Sergio Padilla-Lopez
    • , Richard P. Lifton
    • , Jozef Gecz
    • , Alastair H. MacLennan
    •  & Michael C. Kruer
  • Article |

    A short isoform of the SARS-CoV-2 host receptor ACE2, expressed in human nasal and bronchial respiratory epithelia, is upregulated in response to interferon treatment and rhinovirus infection, but not SARS-CoV-2 infection.

    • Cornelia Blume
    • , Claire L. Jackson
    • , Cosma Mirella Spalluto
    • , Jelmer Legebeke
    • , Liliya Nazlamova
    • , Franco Conforti
    • , Jeanne-Marie Perotin
    • , Martin Frank
    • , John Butler
    • , Max Crispin
    • , Janice Coles
    • , James Thompson
    • , Robert A. Ridley
    • , Lareb S. N. Dean
    • , Matthew Loxham
    • , Stephanie Reikine
    • , Adnan Azim
    • , Kamran Tariq
    • , David A. Johnston
    • , Paul J. Skipp
    • , Ratko Djukanovic
    • , Diana Baralle
    • , Christopher J. McCormick
    • , Donna E. Davies
    • , Jane S. Lucas
    • , Gabrielle Wheway
    •  & Vito Mennella
  • Editorial |

    After a year turned upside-down by the COVID-19 pandemic, and now with promising vaccine news on the horizon, we can start looking forward to a new year with the hope that 2021 will bring exciting things to the science community. Here, Nature Genetics shares what we are awaiting in 2021.

  • News & Views |

    Half of all colorectal cancers bear KRAS-activating mutations that affect the metabolic dependencies of cancer cells and drive resistance to commonly used drugs. A new study provides insights into KRAS-driven metabolic rewiring and identifies a new therapeutic target for KRAS-mutant cancers.

    • Sanne Bootsma
    • , Sanne M. van Neerven
    •  & Louis Vermeulen
  • Article |

    Whole-genome sequencing of monozygotic twins, along with their parents, spouses and children, identifies postzygotic mutations present in the somatic tissue of one twin, but not the other, and characterizes differences in the number and timing of these mutations.

    • Hakon Jonsson
    • , Erna Magnusdottir
    • , Hannes P. Eggertsson
    • , Olafur A. Stefansson
    • , Gudny A. Arnadottir
    • , Ogmundur Eiriksson
    • , Florian Zink
    • , Einar A. Helgason
    • , Ingileif Jonsdottir
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , Doruk Beyter
    • , Thora Steingrimsdottir
    • , Gudmundur L. Norddahl
    • , Olafur Th. Magnusson
    • , Gisli Masson
    • , Bjarni V. Halldorsson
    • , Unnur Thorsteinsdottir
    • , Agnar Helgason
    • , Patrick Sulem
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
  • Article |

    Analysis of copy number alterations in 1,451 patient-derived xenografts (PDXs) and matched patient tumor samples shows strong conservation from patient tumors through late-passage PDXs and a lack of systematic copy number evolution driven by the mouse host.

    • Xing Yi Woo
    • , Jessica Giordano
    • , Anuj Srivastava
    • , Zi-Ming Zhao
    • , Michael W. Lloyd
    • , Roebi de Bruijn
    • , Yun-Suhk Suh
    • , Rajesh Patidar
    • , Li Chen
    • , Sandra Scherer
    • , Matthew H. Bailey
    • , Chieh-Hsiang Yang
    • , Emilio Cortes-Sanchez
    • , Yuanxin Xi
    • , Jing Wang
    • , Jayamanna Wickramasinghe
    • , Andrew V. Kossenkov
    • , Vito W. Rebecca
    • , Hua Sun
    • , R. Jay Mashl
    • , Sherri R. Davies
    • , Ryan Jeon
    • , Christian Frech
    • , Jelena Randjelovic
    • , Jacqueline Rosains
    • , Francesco Galimi
    • , Andrea Bertotti
    • , Adam Lafferty
    • , Alice C. O’Farrell
    • , Elodie Modave
    • , Diether Lambrechts
    • , Petra ter Brugge
    • , Violeta Serra
    • , Elisabetta Marangoni
    • , Rania El Botty
    • , Hyunsoo Kim
    • , Jong-Il Kim
    • , Han-Kwang Yang
    • , Charles Lee
    • , Dennis A. Dean II
    • , Brandi Davis-Dusenbery
    • , Yvonne A. Evrard
    • , James H. Doroshow
    • , Alana L. Welm
    • , Bryan E. Welm
    • , Michael T. Lewis
    • , Bingliang Fang
    • , Jack A. Roth
    • , Funda Meric-Bernstam
    • , Meenhard Herlyn
    • , Michael A. Davies
    • , Li Ding
    • , Shunqiang Li
    • , Ramaswamy Govindan
    • , Claudio Isella
    • , Jeffrey A. Moscow
    • , Livio Trusolino
    • , Annette T. Byrne
    • , Jos Jonkers
    • , Carol J. Bult
    • , Enzo Medico
    • , Jeffrey H. Chuang
    • , Matthew H. Bailey
    • , Vito W. Rebecca
    • , Michael A. Davies
    • , Peter N. Robinson
    • , Brian J. Sanderson
    • , Steven B. Neuhauser
    • , Lacey E. Dobrolecki
    • , Xiaofeng Zheng
    • , Mourad Majidi
    • , Ran Zhang
    • , Xiaoshan Zhang
    • , Argun Akcakanat
    • , Kurt W. Evans
    • , Timothy A. Yap
    • , Dali Li
    • , Erkan Yucan
    • , Christopher D. Lanier
    • , Turcin Saridogan
    • , Bryce P. Kirby
    • , Min Jin Ha
    • , Huiqin Chen
    • , Scott Kopetz
    • , David G. Menter
    • , Jianhua Zhang
    • , Shannon N. Westin
    • , Michael P. Kim
    • , Bingbing Dai
    • , Don L. Gibbons
    • , Coya Tapia
    • , Vanessa B. Jensen
    • , Gao Boning
    • , John D. Minna
    • , Hyunsil Park
    • , Brenda C. Timmons
    • , Luc Girard
    • , Dylan Fingerman
    • , Qin Liu
    • , Rajasekharan Somasundaram
    • , Min Xiao
    • , Vashisht G. Yennu-Nanda
    • , Michael T. Tetzlaff
    • , Xiaowei Xu
    • , Katherine L. Nathanson
    • , Song Cao
    • , Feng Chen
    • , John F. DiPersio
    • , Kian H. Lim
    • , Cynthia X. Ma
    • , Fernanda M. Rodriguez
    • , Brian A. Van Tine
    • , Andrea Wang-Gillam
    • , Michael C. Wendl
    • , Yige Wu
    • , Matthew A. Wyczalkowski
    • , Lijun Yao
    • , Reyka Jayasinghe
    • , Rebecca L. Aft
    • , Ryan C. Fields
    • , Jingqin Luo
    • , Katherine C. Fuh
    • , Vicki Chin
    • , John DiGiovanna
    • , Jeffrey Grover
    • , Soner Koc
    • , Sara Seepo
    • , Tiffany Wallace
    • , Chong-Xian Pan
    • , Moon S. Chen Jr
    • , Luis G. Carvajal-Carmona
    • , Amanda R. Kirane
    • , May Cho
    • , David R. Gandara
    • , Jonathan W. Riess
    • , Tiffany Le
    • , Ralph W. deVere White
    • , Clifford G. Tepper
    • , Hongyong Zhang
    • , Nicole B. Coggins
    • , Paul Lott
    • , Ana Estrada
    • , Ted Toal
    • , Alexa Morales Arana
    • , Guadalupe Polanco-Echeverry
    • , Sienna Rocha
    • , Ai-Hong Ma
    • , Nicholas Mitsiades
    • , Salma Kaochar
    • , Bert W. O’Malley
    • , Matthew J. Ellis
    • , Susan G. Hilsenbeck
    • , Michael Ittmann
    • , Roebi de Bruijn
    • , Petra ter Brugge
    • , Simona Corso
    • , Alessandro Fiori
    • , Silvia Giordano
    • , Marieke van de Ven
    • , Daniel S. Peeper
    • , Ian Miller
    • , Cristina Bernadó
    • , Beatriz Morancho
    • , Lorena Ramírez
    • , Joaquín Arribas
    • , Héctor G. Palmer
    • , Alejandro Piris-Gimenez
    • , Laura Soucek
    • , Ahmed Dahmani
    • , Elodie Montaudon
    • , Fariba Nemati
    • , Virginie Dangles-Marie
    • , Didier Decaudin
    • , Sergio Roman-Roman
    • , Denis G. Alférez
    • , Katherine Spence
    • , Robert B. Clarke
    • , Mohamed Bentires-Alj
    • , David K. Chang
    • , Andrew V. Biankin
    • , Alejandra Bruna
    • , Martin O’Reilly
    • , Carlos Caldas
    • , Oriol Casanovas
    • , Eva Gonzalez-Suarez
    • , Purificacíon Muñoz
    • , Alberto Villanueva
    • , Nathalie Conte
    • , Jeremy Mason
    • , Ross Thorne
    • , Terrence F. Meehan
    • , Helen Parkinson
    • , Zdenka Dudova
    • , Ales Křenek
    • , Dalibor Stuchlík
    • , Olivier Elemento
    • , Giorgio Inghirami
    • , Anna Golebiewska
    • , Simone P. Niclou
    • , G. Bea A. Wisman
    • , Steven de Jong
    • , Petra Kralova
    • , Radislav Sedlacek
    • , Elisa Claeys
    • , Eleonora Leucci
    • , Massimiliano Borsani
    • , Luisa Lanfrancone
    • , Pier Giuseppe Pelicci
    • , Gunhild Mari Mælandsmo
    • , Jens Henrik Norum
    •  & Emilie Vinolo
  • Article |

    Colorectal tumors with mutated KRAS and APC require the amino acid transporter SLC7A5 to drive tumorigenesis. Mechanistically, SLC7A5 drives transcriptional and metabolic reprogramming by maintaining intracellular amino acid levels, leading to enhanced protein synthesis.

    • Arafath K. Najumudeen
    • , Fatih Ceteci
    • , Sigrid K. Fey
    • , Gregory Hamm
    • , Rory T. Steven
    • , Holly Hall
    • , Chelsea J. Nikula
    • , Alex Dexter
    • , Teresa Murta
    • , Alan M. Race
    • , David Sumpton
    • , Nikola Vlahov
    • , David M. Gay
    • , John R. P. Knight
    • , Rene Jackstadt
    • , Joshua D. G. Leach
    • , Rachel A. Ridgway
    • , Emma R. Johnson
    • , Colin Nixon
    • , Ann Hedley
    • , Kathryn Gilroy
    • , William Clark
    • , Sudhir B. Malla
    • , Philip D. Dunne
    • , Giovanny Rodriguez-Blanco
    • , Susan E. Critchlow
    • , Agata Mrowinska
    • , Gaurav Malviya
    • , Dmitry Solovyev
    • , Gavin Brown
    • , David Y. Lewis
    • , Gillian M. Mackay
    • , Douglas Strathdee
    • , Saverio Tardito
    • , Eyal Gottlieb
    • , Andrew Campbell
    • , Arafath Najumudeen
    • , Alan M. Race
    • , Ian Gilmore
    • , Greg McMahon
    • , Paul Grant
    • , Bin Yan
    • , Adam J. Taylor
    • , Efstathios Elia
    • , Spencer Thomas
    • , Catherine Munteanu
    • , Ala Al-Afeef
    • , Amy Burton
    • , Jean-Luc Vorng
    • , Xavier Loizeau
    • , Weiwei Zhou
    • , Ammar Nasif
    • , Ariadna Gonzalez
    • , Hanifa Koquna
    • , Martin Metodiev
    • , Melina Kyriazi
    • , Junting Zhang
    • , Lucas Zeiger
    • , Johan Vande-Voorde
    • , Jennifer Morton
    • , Dmitry Soloviev
    • , Vincen Wu
    • , Yuchen Xiang
    • , Daniel McGill
    • , Stefania Maneta-Stravrakaki
    • , Jaynisha Mistry
    • , Emine Kazanc
    • , Mariia Yuneva
    • , Yulia Panina
    • , Chandan Seth Nanda
    • , Peter Kreuzaler
    • , Avinash Ghanate
    • , Stephanie Ling
    • , Jack Richings
    • , Kevin Brindle
    • , Anastasia Tsyben
    • , George Poulogiannis
    • , Amit Gupta
    • , Aurelien Tripp
    • , Evi Karali
    • , Nikolaos Koundouros
    • , Thanasis Tsalikis
    • , John Marshall
    • , Magali Garrett
    • , Harry Hall
    • , Zoltan Takats
    • , Simon T. Barry
    • , Richard J. A. Goodwin
    • , Josephine Bunch
    • , Martin Bushell
    • , Andrew D. Campbell
    •  & Owen J. Sansom
  • Article |

    A large-scale genome-wide meta-analysis conducted across different platforms identifies genetic loci regulating levels of circulating metabolites.

    • Luca A. Lotta
    • , Maik Pietzner
    • , Isobel D. Stewart
    • , Laura B. L. Wittemans
    • , Chen Li
    • , Roberto Bonelli
    • , Johannes Raffler
    • , Emma K. Biggs
    • , Clare Oliver-Williams
    • , Victoria P. W. Auyeung
    • , Jian’an Luan
    • , Eleanor Wheeler
    • , Ellie Paige
    • , Praveen Surendran
    • , Gregory A. Michelotti
    • , Robert A. Scott
    • , Stephen Burgess
    • , Verena Zuber
    • , Eleanor Sanderson
    • , Albert Koulman
    • , Fumiaki Imamura
    • , Nita G. Forouhi
    • , Kay-Tee Khaw
    • , Melanie Bahlo
    • , Julian L. Griffin
    • , Angela M. Wood
    • , Gabi Kastenmüller
    • , John Danesh
    • , Adam S. Butterworth
    • , Fiona M. Gribble
    • , Frank Reimann
    • , Melanie Bahlo
    • , Eric Fauman
    • , Nicholas J. Wareham
    •  & Claudia Langenberg
  • Article |

    Genomic structural equation modeling of genome-wide association data for educational attainment and cognitive test performance is used to estimate the genetic component of variation in educational attainment that is independent of cognitive ability. The study finds that noncognitive skills account for 57% of genetic variation in educational attainment.

    • Perline A. Demange
    • , Margherita Malanchini
    • , Travis T. Mallard
    • , Pietro Biroli
    • , Simon R. Cox
    • , Andrew D. Grotzinger
    • , Elliot M. Tucker-Drob
    • , Abdel Abdellaoui
    • , Louise Arseneault
    • , Elsje van Bergen
    • , Dorret I. Boomsma
    • , Avshalom Caspi
    • , David L. Corcoran
    • , Benjamin W. Domingue
    • , Kathleen Mullan Harris
    • , Hill F. Ip
    • , Colter Mitchell
    • , Terrie E. Moffitt
    • , Richie Poulton
    • , Joseph A. Prinz
    • , Karen Sugden
    • , Jasmin Wertz
    • , Benjamin S. Williams
    • , Eveline L. de Zeeuw
    • , Daniel W. Belsky
    • , K. Paige Harden
    •  & Michel G. Nivard
  • Comment |

    Here, we argue that, in line with the dramatic increase in the collection, storage and curation of human genomic data for biomedical research, genomic data repositories and consortia have adopted governance frameworks to both enable wide access and protect against possible harms. However, the merits and limitations of different governance frameworks in achieving these twin aims are a matter of ongoing debate in the scientific community; indeed, best practices and points for consideration are notably absent in devising governance frameworks for genomic databases. According to our collective experience in devising and assessing governance frameworks, we identify five key functions of ‘good governance’ (or ‘better governance’) and three areas in which trade-offs should be considered when specifying policies within those functions. We apply these functions as a benchmark to describe, as an example, the governance frameworks of six large-scale international genomic projects.

    • Kieran C. O’Doherty
    • , Mahsa Shabani
    • , Edward S. Dove
    • , Heidi Beate Bentzen
    • , Pascal Borry
    • , Michael M. Burgess
    • , Don Chalmers
    • , Jantina De Vries
    • , Lisa Eckstein
    • , Stephanie M. Fullerton
    • , Eric Juengst
    • , Kazuto Kato
    • , Jane Kaye
    • , Bartha Maria Knoppers
    • , Barbara A. Koenig
    • , Spero M. Manson
    • , Kimberlyn M. McGrail
    • , Amy L. McGuire
    • , Eric M. Meslin
    • , Dianne Nicol
    • , Barbara Prainsack
    • , Sharon F. Terry
    • , Adrian Thorogood
    •  & Wylie Burke
  • Letter |

    A high tumor mutational burden (TMB) is associated with improved immunotherapy response in many tumor types. This analysis of 10,233 individuals shows that, in contrast, high TMB is associated with poorer survival in patients that have not been treated with immune checkpoint inhibitors.

    • Cristina Valero
    • , Mark Lee
    • , Douglas Hoen
    • , Jingming Wang
    • , Zaineb Nadeem
    • , Neal Patel
    • , Michael A. Postow
    • , Alexander N. Shoushtari
    • , George Plitas
    • , Vinod P. Balachandran
    • , J. Joshua Smith
    • , Aimee M. Crago
    • , Kara C. Long Roche
    • , Daniel W. Kelly
    • , Robert M. Samstein
    • , Satshil Rana
    • , Ian Ganly
    • , Richard J. Wong
    • , A. Ari Hakimi
    • , Michael F. Berger
    • , Ahmet Zehir
    • , David B. Solit
    • , Marc Ladanyi
    • , Nadeem Riaz
    • , Timothy A. Chan
    • , Venkatraman E. Seshan
    •  & Luc G. T. Morris
  • Article |

    A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.

    • David V. Conti
    • , Burcu F. Darst
    • , Lilit C. Moss
    • , Edward J. Saunders
    • , Xin Sheng
    • , Alisha Chou
    • , Fredrick R. Schumacher
    • , Ali Amin Al Olama
    • , Sara Benlloch
    • , Tokhir Dadaev
    • , Mark N. Brook
    • , Ali Sahimi
    • , Thomas J. Hoffmann
    • , Atushi Takahashi
    • , Koichi Matsuda
    • , Yukihide Momozawa
    • , Masashi Fujita
    • , Kenneth Muir
    • , Artitaya Lophatananon
    • , Peggy Wan
    • , Loic Le Marchand
    • , Lynne R. Wilkens
    • , Victoria L. Stevens
    • , Susan M. Gapstur
    • , Brian D. Carter
    • , Johanna Schleutker
    • , Teuvo L. J. Tammela
    • , Csilla Sipeky
    • , Anssi Auvinen
    • , Graham G. Giles
    • , Melissa C. Southey
    • , Robert J. MacInnis
    • , Cezary Cybulski
    • , Dominika Wokołorczyk
    • , Jan Lubiński
    • , David E. Neal
    • , Jenny L. Donovan
    • , Freddie C. Hamdy
    • , Richard M. Martin
    • , Børge G. Nordestgaard
    • , Sune F. Nielsen
    • , Maren Weischer
    • , Stig E. Bojesen
    • , Martin Andreas Røder
    • , Peter Iversen
    • , Jyotsna Batra
    • , Suzanne Chambers
    • , Leire Moya
    • , Lisa Horvath
    • , Judith A. Clements
    • , Wayne Tilley
    • , Gail P. Risbridger
    • , Henrik Gronberg
    • , Markus Aly
    • , Robert Szulkin
    • , Martin Eklund
    • , Tobias Nordström
    • , Nora Pashayan
    • , Alison M. Dunning
    • , Maya Ghoussaini
    • , Ruth C. Travis
    • , Tim J. Key
    • , Elio Riboli
    • , Jong Y. Park
    • , Thomas A. Sellers
    • , Hui-Yi Lin
    • , Demetrius Albanes
    • , Stephanie J. Weinstein
    • , Lorelei A. Mucci
    • , Edward Giovannucci
    • , Sara Lindstrom
    • , Peter Kraft
    • , David J. Hunter
    • , Kathryn L. Penney
    • , Constance Turman
    • , Catherine M. Tangen
    • , Phyllis J. Goodman
    • , Ian M. Thompson Jr.
    • , Robert J. Hamilton
    • , Neil E. Fleshner
    • , Antonio Finelli
    • , Marie-Élise Parent
    • , Janet L. Stanford
    • , Elaine A. Ostrander
    • , Milan S. Geybels
    • , Stella Koutros
    • , Laura E. Beane Freeman
    • , Meir Stampfer
    • , Alicja Wolk
    • , Niclas Håkansson
    • , Gerald L. Andriole
    • , Robert N. Hoover
    • , Mitchell J. Machiela
    • , Karina Dalsgaard Sørensen
    • , Michael Borre
    • , William J. Blot
    • , Wei Zheng
    • , Edward D. Yeboah
    • , James E. Mensah
    • , Yong-Jie Lu
    • , Hong-Wei Zhang
    • , Ninghan Feng
    • , Xueying Mao
    • , Yudong Wu
    • , Shan-Chao Zhao
    • , Zan Sun
    • , Stephen N. Thibodeau
    • , Shannon K. McDonnell
    • , Daniel J. Schaid
    • , Catharine M. L. West
    • , Neil Burnet
    • , Gill Barnett
    • , Christiane Maier
    • , Thomas Schnoeller
    • , Manuel Luedeke
    • , Adam S. Kibel
    • , Bettina F. Drake
    • , Olivier Cussenot
    • , Géraldine Cancel-Tassin
    • , Florence Menegaux
    • , Thérèse Truong
    • , Yves Akoli Koudou
    • , Esther M. John
    • , Eli Marie Grindedal
    • , Lovise Maehle
    • , Kay-Tee Khaw
    • , Sue A. Ingles
    • , Mariana C. Stern
    • , Ana Vega
    • , Antonio Gómez-Caamaño
    • , Laura Fachal
    • , Barry S. Rosenstein
    • , Sarah L. Kerns
    • , Harry Ostrer
    • , Manuel R. Teixeira
    • , Paula Paulo
    • , Andreia Brandão
    • , Stephen Watya
    • , Alexander Lubwama
    • , Jeannette T. Bensen
    • , Elizabeth T. H. Fontham
    • , James Mohler
    • , Jack A. Taylor
    • , Manolis Kogevinas
    • , Javier Llorca
    • , Gemma Castaño-Vinyals
    • , Lisa Cannon-Albright
    • , Craig C. Teerlink
    • , Chad D. Huff
    • , Sara S. Strom
    • , Luc Multigner
    • , Pascal Blanchet
    • , Laurent Brureau
    • , Radka Kaneva
    • , Chavdar Slavov
    • , Vanio Mitev
    • , Robin J. Leach
    • , Brandi Weaver
    • , Hermann Brenner
    • , Katarina Cuk
    • , Bernd Holleczek
    • , Kai-Uwe Saum
    • , Eric A. Klein
    • , Ann W. Hsing
    • , Rick A. Kittles
    • , Adam B. Murphy
    • , Christopher J. Logothetis
    • , Jeri Kim
    • , Susan L. Neuhausen
    • , Linda Steele
    • , Yuan Chun Ding
    • , William B. Isaacs
    • , Barbara Nemesure
    • , Anselm J. M. Hennis
    • , John Carpten
    • , Hardev Pandha
    • , Agnieszka Michael
    • , Kim De Ruyck
    • , Gert De Meerleer
    • , Piet Ost
    • , Jianfeng Xu
    • , Azad Razack
    • , Jasmine Lim
    • , Soo-Hwang Teo
    • , Lisa F. Newcomb
    • , Daniel W. Lin
    • , Jay H. Fowke
    • , Christine Neslund-Dudas
    • , Benjamin A. Rybicki
    • , Marija Gamulin
    • , Davor Lessel
    • , Tomislav Kulis
    • , Nawaid Usmani
    • , Sandeep Singhal
    • , Matthew Parliament
    • , Frank Claessens
    • , Steven Joniau
    • , Thomas Van den Broeck
    • , Manuela Gago-Dominguez
    • , Jose Esteban Castelao
    • , Maria Elena Martinez
    • , Samantha Larkin
    • , Paul A. Townsend
    • , Claire Aukim-Hastie
    • , William S. Bush
    • , Melinda C. Aldrich
    • , Dana C. Crawford
    • , Shiv Srivastava
    • , Jennifer C. Cullen
    • , Gyorgy Petrovics
    • , Graham Casey
    • , Monique J. Roobol
    • , Guido Jenster
    • , Ron H. N. van Schaik
    • , Jennifer J. Hu
    • , Maureen Sanderson
    • , Rohit Varma
    • , Roberta McKean-Cowdin
    • , Mina Torres
    • , Nicholas Mancuso
    • , Sonja I. Berndt
    • , Stephen K. Van Den Eeden
    • , Douglas F. Easton
    • , Stephen J. Chanock
    • , Michael B. Cook
    • , Fredrik Wiklund
    • , Hidewaki Nakagawa
    • , John S. Witte
    • , Rosalind A. Eeles
    • , Zsofia Kote-Jarai
    •  & Christopher A. Haiman
  • Article |

    A genetic screen designed to capture modulators of single-cell state variability identifies a new mode of altering resistance to BRAF inhibition in melanoma that pushes cells toward a more differentiated state. Modulating cellular plasticity may provide a new avenue to overcome drug resistance.

    • Eduardo A. Torre
    • , Eri Arai
    • , Sareh Bayatpour
    • , Connie L. Jiang
    • , Lauren E. Beck
    • , Benjamin L. Emert
    • , Sydney M. Shaffer
    • , Ian A. Mellis
    • , Mitchell E. Fane
    • , Gretchen M. Alicea
    • , Krista A. Budinich
    • , Ashani T. Weeraratna
    • , Junwei Shi
    •  & Arjun Raj
  • Author Correction |

    • Mark K. Bakker
    • , Rick A. A. van der Spek
    • , Wouter van Rheenen
    • , Sandrine Morel
    • , Romain Bourcier
    • , Isabel C. Hostettler
    • , Varinder S. Alg
    • , Kristel R. van Eijk
    • , Masaru Koido
    • , Masato Akiyama
    • , Chikashi Terao
    • , Koichi Matsuda
    • , Robin G. Walters
    • , Kuang Lin
    • , Liming Li
    • , Iona Y. Millwood
    • , Zhengming Chen
    • , Guy A. Rouleau
    • , Sirui Zhou
    • , Kristiina Rannikmäe
    • , Cathie L. M. Sudlow
    • , Henry Houlden
    • , Leonard H. van den Berg
    • , Christian Dina
    • , Olivier Naggara
    • , Jean-Christophe Gentric
    • , Eimad Shotar
    • , François Eugène
    • , Hubert Desal
    • , Bendik S. Winsvold
    • , Sigrid Børte
    • , Marianne Bakke Johnsen
    • , Ben M. Brumpton
    • , Marie Søfteland Sandvei
    • , Cristen J. Willer
    • , Kristian Hveem
    • , John-Anker Zwart
    • , W. M. Monique Verschuren
    • , Christoph M. Friedrich
    • , Sven Hirsch
    • , Sabine Schilling
    • , Jérôme Dauvillier
    • , Olivier Martin
    • , Zheng Bian
    • , Junshi Chen
    • , Yiping Chen
    • , Robert Clarke
    • , Rory Collins
    • , Yu Guo
    • , Xiao Han
    • , Michael Hill
    • , Depei Liu
    • , Jun Lv
    • , Iona Millwood
    • , Richard Peto
    • , Sam Sansome
    • , Robin Walters
    • , Xiaoming Yang
    • , Canqing Yu
    • , Stephen Bonner
    • , Daniel Walsh
    • , Diederik Bulters
    • , Neil Kitchen
    • , Martin Brown
    • , Joan Grieve
    • , Martin Dichgans
    • , Gregory T. Jones
    • , Matthew J. Bown
    • , Nerissa U. Ko
    • , Helen Kim
    • , Jonathan R. I. Coleman
    • , Gerome Breen
    • , Jonathan G. Zaroff
    • , Catharina J. M. Klijn
    • , Rainer Malik
    • , Martin Dichgans
    • , Muralidharan Sargurupremraj
    • , Turgut Tatlisumak
    • , Philippe Amouyel
    • , Stéphanie Debette
    • , Gabriel J. E. Rinkel
    • , Bradford B. Worrall
    • , Joanna Pera
    • , Agnieszka Slowik
    • , Emília I. Gaál-Paavola
    • , Mika Niemelä
    • , Juha E. Jääskeläinen
    • , Mikael von Und Zu Fraunberg
    • , Antti Lindgren
    • , Joseph P. Broderick
    • , David J. Werring
    • , Daniel Woo
    • , Richard Redon
    • , Philippe Bijlenga
    • , Yoichiro Kamatani
    • , Jan H. Veldink
    •  & Ynte M. Ruigrok
  • Article |

    H3K27ac HiChIP analysis helps to identify promoter-interacting expression quantitative trait loci (pieQTLs) in five common immune cell types. Some pieQTLs overlap with nontranscribed promoters that act as enhancers.

    • Vivek Chandra
    • , Sourya Bhattacharyya
    • , Benjamin J. Schmiedel
    • , Ariel Madrigal
    • , Cristian Gonzalez-Colin
    • , Stephanie Fotsing
    • , Austin Crinklaw
    • , Gregory Seumois
    • , Pejman Mohammadi
    • , Mitchell Kronenberg
    • , Bjoern Peters
    • , Ferhat Ay
    •  & Pandurangan Vijayanand
  • Article |

    A multivariate genome-wide association study identifies 203 signals associated with facial variation. These signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues.

    • Julie D. White
    • , Karlijne Indencleef
    • , Sahin Naqvi
    • , Ryan J. Eller
    • , Hanne Hoskens
    • , Jasmien Roosenboom
    • , Myoung Keun Lee
    • , Jiarui Li
    • , Jaaved Mohammed
    • , Stephen Richmond
    • , Ellen E. Quillen
    • , Heather L. Norton
    • , Eleanor Feingold
    • , Tomek Swigut
    • , Mary L. Marazita
    • , Hilde Peeters
    • , Greet Hens
    • , John R. Shaffer
    • , Joanna Wysocka
    • , Susan Walsh
    • , Seth M. Weinberg
    • , Mark D. Shriver
    •  & Peter Claes
  • Article |

    A resource of cell-type-specific IMPACT regulatory annotations improves the trans-ancestry portability of polygenic risk scores by prioritizing variants enriched for trait heritability.

    • Tiffany Amariuta
    • , Kazuyoshi Ishigaki
    • , Hiroki Sugishita
    • , Tazro Ohta
    • , Masaru Koido
    • , Kushal K. Dey
    • , Koichi Matsuda
    • , Yoshinori Murakami
    • , Alkes L. Price
    • , Eiryo Kawakami
    • , Chikashi Terao
    •  & Soumya Raychaudhuri
  • News & Views |

    Maintaining ignorance to self-nucleic acids can prevent inflammatory diseases such as Aicardi–Goutières syndrome (AGS). A new study finds that mutations in LSM11 and RNU7-1, which encode components of the histone messenger RNA–preprocessing complex, cause AGS by loosening the binding of cyclic GMP–AMP synthase (cGAS) to nucleosomes, thus enabling cGAS activation and induction of type I interferons.

    • Fiachra Humphries
    •  & Katherine A. Fitzgerald
  • Article |

    Harmonized analysis of 1,048 melanomas shows different global genomic properties among subtypes and identifies subtype-specific enrichment for secondary driver genes.

    • Jake R. Conway
    • , Felix Dietlein
    • , Amaro Taylor-Weiner
    • , Saud AlDubayan
    • , Natalie Vokes
    • , Tanya Keenan
    • , Brendan Reardon
    • , Meng Xiao He
    • , Claire A. Margolis
    • , Jason L. Weirather
    • , Rizwan Haq
    • , Bastian Schilling
    • , F. Stephen Hodi
    • , Dirk Schadendorf
    • , David Liu
    •  & Eliezer M. Van Allen
  • Article |

    Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

    • Praveen Surendran
    • , Elena V. Feofanova
    • , Najim Lahrouchi
    • , Ioanna Ntalla
    • , Savita Karthikeyan
    • , James Cook
    • , Lingyan Chen
    • , Borbala Mifsud
    • , Chen Yao
    • , Aldi T. Kraja
    • , James H. Cartwright
    • , Jacklyn N. Hellwege
    • , Ayush Giri
    • , Vinicius Tragante
    • , Gudmar Thorleifsson
    • , Dajiang J. Liu
    • , Bram P. Prins
    • , Isobel D. Stewart
    • , Claudia P. Cabrera
    • , James M. Eales
    • , Artur Akbarov
    • , Paul L. Auer
    • , Lawrence F. Bielak
    • , Joshua C. Bis
    • , Vickie S. Braithwaite
    • , Jennifer A. Brody
    • , E. Warwick Daw
    • , Helen R. Warren
    • , Fotios Drenos
    • , Sune Fallgaard Nielsen
    • , Jessica D. Faul
    • , Eric B. Fauman
    • , Cristiano Fava
    • , Teresa Ferreira
    • , Christopher N. Foley
    • , Nora Franceschini
    • , He Gao
    • , Olga Giannakopoulou
    • , Franco Giulianini
    • , Daniel F. Gudbjartsson
    • , Xiuqing Guo
    • , Sarah E. Harris
    • , Aki S. Havulinna
    • , Anna Helgadottir
    • , Jennifer E. Huffman
    • , Shih-Jen Hwang
    • , Stavroula Kanoni
    • , Jukka Kontto
    • , Martin G. Larson
    • , Ruifang Li-Gao
    • , Jaana Lindström
    • , Luca A. Lotta
    • , Yingchang Lu
    • , Jian’an Luan
    • , Anubha Mahajan
    • , Giovanni Malerba
    • , Nicholas G. D. Masca
    • , Hao Mei
    • , Cristina Menni
    • , Dennis O. Mook-Kanamori
    • , David Mosen-Ansorena
    • , Martina Müller-Nurasyid
    • , Guillaume Paré
    • , Dirk S. Paul
    • , Markus Perola
    • , Alaitz Poveda
    • , Rainer Rauramaa
    • , Melissa Richard
    • , Tom G. Richardson
    • , Nuno Sepúlveda
    • , Xueling Sim
    • , Albert V. Smith
    • , Jennifer A. Smith
    • , James R. Staley
    • , Alena Stanáková
    • , Patrick Sulem
    • , Sébastien Thériault
    • , Unnur Thorsteinsdottir
    • , Stella Trompet
    • , Tibor V. Varga
    • , Digna R. Velez Edwards
    • , Giovanni Veronesi
    • , Stefan Weiss
    • , Sara M. Willems
    • , Jie Yao
    • , Robin Young
    • , Bing Yu
    • , Weihua Zhang
    • , Jing-Hua Zhao
    • , Wei Zhao
    • , Wei Zhao
    • , Evangelos Evangelou
    • , Stefanie Aeschbacher
    • , Eralda Asllanaj
    • , Stefan Blankenberg
    • , Lori L. Bonnycastle
    • , Jette Bork-Jensen
    • , Ivan Brandslund
    • , Peter S. Braund
    • , Stephen Burgess
    • , Kelly Cho
    • , Cramer Christensen
    • , John Connell
    • , Renée de Mutsert
    • , Anna F. Dominiczak
    • , Marcus Dörr
    • , Gudny Eiriksdottir
    • , Aliki-Eleni Farmaki
    • , J. Michael Gaziano
    • , Niels Grarup
    • , Megan L. Grove
    • , Göran Hallmans
    • , Torben Hansen
    • , Christian T. Have
    • , Gerardo Heiss
    • , Marit E. Jørgensen
    • , Pekka Jousilahti
    • , Eero Kajantie
    • , Mihir Kamat
    • , AnneMari Käräjämäki
    • , Fredrik Karpe
    • , Heikki A. Koistinen
    • , Csaba P. Kovesdy
    • , Kari Kuulasmaa
    • , Tiina Laatikainen
    • , Lars Lannfelt
    • , I-Te Lee
    • , Wen-Jane Lee
    • , Rudolf A. de Boer
    • , Pim van der Harst
    • , Peter van der Meer
    • , Niek Verweij
    • , Allan Linneberg
    • , Lisa W. Martin
    • , Marie Moitry
    • , Girish Nadkarni
    • , Matt J. Neville
    • , Colin N. A. Palmer
    • , George J. Papanicolaou
    • , Oluf Pedersen
    • , James Peters
    • , Neil Poulter
    • , Asif Rasheed
    • , Katrine L. Rasmussen
    • , N. William Rayner
    • , Reedik Mägi
    • , Frida Renström
    • , Rainer Rettig
    • , Jacques Rossouw
    • , Pamela J. Schreiner
    • , Peter S. Sever
    • , Emil L. Sigurdsson
    • , Tea Skaaby
    • , Yan V. Sun
    • , Johan Sundstrom
    • , Gudmundur Thorgeirsson
    • , Tõnu Esko
    • , Elisabetta Trabetti
    • , Philip S. Tsao
    • , Tiinamaija Tuomi
    • , Stephen T. Turner
    • , Ioanna Tzoulaki
    • , Ilonca Vaartjes
    • , Anne-Claire Vergnaud
    • , Cristen J. Willer
    • , Peter W. F. Wilson
    • , Daniel R. Witte
    • , Ekaterina Yonova-Doing
    • , He Zhang
    • , Naheed Aliya
    • , Peter Almgren
    • , Philippe Amouyel
    • , Folkert W. Asselbergs
    • , Michael R. Barnes
    • , Alexandra I. Blakemore
    • , Michael Boehnke
    • , Michiel L. Bots
    • , Erwin P. Bottinger
    • , Julie E. Buring
    • , John C. Chambers
    • , Yii-Der Ida Chen
    • , Rajiv Chowdhury
    • , David Conen
    • , Adolfo Correa
    • , George Davey Smith
    • , Rudolf A. de Boer
    • , Ian J. Deary
    • , George Dedoussis
    • , Panos Deloukas
    • , Emanuele Di Angelantonio
    • , Paul Elliott
    • , Adam S. Butterworth
    • , John Danesh
    • , Claudia Langenberg
    • , Panos Deloukas
    • , Mark I. McCarthy
    • , Paul W. Franks
    • , Olov Rolandsson
    • , Nicholas J. Wareham
    • , Stephan B. Felix
    • , Jean Ferrières
    • , Ian Ford
    • , Myriam Fornage
    • , Paul W. Franks
    • , Stephen Franks
    • , Philippe Frossard
    • , Giovanni Gambaro
    • , Tom R. Gaunt
    • , Leif Groop
    • , Vilmundur Gudnason
    • , Tamara B. Harris
    • , Caroline Hayward
    • , Branwen J. Hennig
    • , Karl-Heinz Herzig
    • , Erik Ingelsson
    • , Jaakko Tuomilehto
    • , Marjo-Riitta Järvelin
    • , J. Wouter Jukema
    • , Sharon L. R. Kardia
    • , Frank Kee
    • , Jaspal S. Kooner
    • , Charles Kooperberg
    • , Lenore J. Launer
    • , Lars Lind
    • , Ruth J. F. Loos
    • , Abdulla al Shafi. Majumder
    • , Markku Laakso
    • , Mark I. McCarthy
    • , Olle Melander
    • , Karen L. Mohlke
    • , Alison D. Murray
    • , Børge Grønne Nordestgaard
    • , Marju Orho-Melander
    • , Chris J. Packard
    • , Sandosh Padmanabhan
    • , Walter Palmas
    • , Ozren Polasek
    • , David J. Porteous
    • , Andrew M. Prentice
    • , Michael A. Province
    • , Caroline L. Relton
    • , Kenneth Rice
    • , Paul M. Ridker
    • , Olov Rolandsson
    • , Frits R. Rosendaal
    • , Jerome I. Rotter
    • , Igor Rudan
    • , Veikko Salomaa
    • , Nilesh J. Samani
    • , Naveed Sattar
    • , Wayne H.-H. Sheu
    • , Blair H. Smith
    • , Nicole Soranzo
    • , Timothy D. Spector
    • , John M. Starr
    • , Sylvain Sebert
    • , Kent D. Taylor
    • , Timo A. Lakka
    • , Nicholas J. Timpson
    • , Martin D. Tobin
    • , Bram P. Prins
    • , Eleftheria Zeggini
    • , Pim van der Harst
    • , Peter van der Meer
    • , Vasan S. Ramachandran
    • , Niek Verweij
    • , Jarmo Virtamo
    • , Uwe Völker
    • , David R. Weir
    • , Eleftheria Zeggini
    • , Fadi J. Charchar
    • , Jacklyn N. Hellwege
    • , Ayush Giri
    • , Digna R. Velez Edwards
    • , Kelly Cho
    • , J. Michael Gaziano
    • , Csaba P. Kovesdy
    • , Yan V. Sun
    • , Philip S. Tsao
    • , Peter W. F. Wilson
    • , Todd L. Edwards
    • , Adriana M. Hung
    • , Christopher J. O’Donnell
    • , Nicholas J. Wareham
    • , Claudia Langenberg
    • , Maciej Tomaszewski
    • , Adam S. Butterworth
    • , Mark J. Caulfield
    • , John Danesh
    • , Todd L. Edwards
    • , Hilma Holm
    • , Adriana M. Hung
    • , Cecilia M. Lindgren
    • , Chunyu Liu
    • , Alisa K. Manning
    • , Andrew P. Morris
    • , Alanna C. Morrison
    • , Christopher J. O’Donnell
    • , Bruce M. Psaty
    • , Danish Saleheen
    • , Kari Stefansson
    • , Eric Boerwinkle
    • , Daniel I. Chasman
    • , Daniel Levy
    • , Christopher Newton-Cheh
    • , Patricia B. Munroe
    •  & Joanna M. M. Howson
  • Article |

    Mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA–processing complex, cause an autoinflammatory syndrome due to enhanced interferon signaling mediated by the cGAS–STING pathway, showing an essential role for nuclear histones in suppressing the immunogenicity of self-DNA.

    • Carolina Uggenti
    • , Alice Lepelley
    • , Marine Depp
    • , Andrew P. Badrock
    • , Mathieu P. Rodero
    • , Marie-Thérèse El-Daher
    • , Gillian I. Rice
    • , Somdutta Dhir
    • , Ann P. Wheeler
    • , Ashish Dhir
    • , Waad Albawardi
    • , Marie-Louise Frémond
    • , Luis Seabra
    • , Jennifer Doig
    • , Natalie Blair
    • , Maria José Martin-Niclos
    • , Erika Della Mina
    • , Alejandro Rubio-Roldán
    • , Jose L. García-Pérez
    • , Duncan Sproul
    • , Jan Rehwinkel
    • , Jonny Hertzog
    • , Anne Boland-Auge
    • , Robert Olaso
    • , Jean-François Deleuze
    • , Julien Baruteau
    • , Karine Brochard
    • , Jonathan Buckley
    • , Vanessa Cavallera
    • , Cristina Cereda
    • , Liesbeth M. H. De Waele
    • , Angus Dobbie
    • , Diane Doummar
    • , Frances Elmslie
    • , Margarete Koch-Hogrebe
    • , Ram Kumar
    • , Kate Lamb
    • , John H. Livingston
    • , Anirban Majumdar
    • , Charles Marques Lorenço
    • , Simona Orcesi
    • , Sylviane Peudenier
    • , Kevin Rostasy
    • , Caroline A. Salmon
    • , Christiaan Scott
    • , Davide Tonduti
    • , Guy Touati
    • , Marialuisa Valente
    • , Hélio van der Linden Jr.
    • , Hilde Van Esch
    • , Marie Vermelle
    • , Kate Webb
    • , Andrew P. Jackson
    • , Martin A. M. Reijns
    • , Nick Gilbert
    •  & Yanick J. Crow
  • Article |

    Enhancer variants associated with red blood cell traits alter signaling transcription factor motifs, leading to changes in expression of genes that are upregulated during erythroid differentiation.

    • Avik Choudhuri
    • , Eirini Trompouki
    • , Brian J. Abraham
    • , Leandro M. Colli
    • , Kian Hong Kock
    • , William Mallard
    • , Min-Lee Yang
    • , Divya S. Vinjamur
    • , Alireza Ghamari
    • , Audrey Sporrij
    • , Karen Hoi
    • , Barbara Hummel
    • , Sonja Boatman
    • , Victoria Chan
    • , Sierra Tseng
    • , Satish K. Nandakumar
    • , Song Yang
    • , Asher Lichtig
    • , Michael Superdock
    • , Seraj N. Grimes
    • , Teresa V. Bowman
    • , Yi Zhou
    • , Shinichiro Takahashi
    • , Roby Joehanes
    • , Alan B. Cantor
    • , Daniel E. Bauer
    • , Santhi K. Ganesh
    • , John Rinn
    • , Paul S. Albert
    • , Martha L. Bulyk
    • , Stephen J. Chanock
    • , Richard A. Young
    •  & Leonard I. Zon
  • Article |

    Cross-ancestry genome-wide association analyses in individuals of European and East Asian ancestry identify 11 new risk loci for intracranial aneurysms and highlight a polygenic architecture explaining a substantial fraction of disease heritability.

    • Mark K. Bakker
    • , Rick A. A. van der Spek
    • , Wouter van Rheenen
    • , Sandrine Morel
    • , Romain Bourcier
    • , Isabel C. Hostettler
    • , Varinder S. Alg
    • , Kristel R. van Eijk
    • , Masaru Koido
    • , Masato Akiyama
    • , Chikashi Terao
    • , Koichi Matsuda
    • , Robin G. Walters
    • , Kuang Lin
    • , Liming Li
    • , Iona Y. Millwood
    • , Zhengming Chen
    • , Guy A. Rouleau
    • , Sirui Zhou
    • , Kristiina Rannikmäe
    • , Cathie L. M. Sudlow
    • , Henry Houlden
    • , Leonard H. van den Berg
    • , Christian Dina
    • , Olivier Naggara
    • , Jean-Christophe Gentric
    • , Eimad Shotar
    • , François Eugène
    • , Hubert Desal
    • , Bendik S. Winsvold
    • , Sigrid Børte
    • , Marianne Bakke Johnsen
    • , Ben M. Brumpton
    • , Marie Søfteland Sandvei
    • , Cristen J. Willer
    • , Kristian Hveem
    • , John-Anker Zwart
    • , W. M. Monique Verschuren
    • , Christoph M. Friedrich
    • , Sven Hirsch
    • , Sabine Schilling
    • , Jérôme Dauvillier
    • , Olivier Martin
    • , Zheng Bian
    • , Junshi Chen
    • , Yiping Chen
    • , Robert Clarke
    • , Rory Collins
    • , Yu Guo
    • , Xiao Han
    • , Michael Hill
    • , Depei Liu
    • , Jun Lv
    • , Iona Millwood
    • , Richard Peto
    • , Sam Sansome
    • , Robin Walters
    • , Xiaoming Yang
    • , Canqing Yu
    • , Stephen Bonner
    • , Daniel Walsh
    • , Diederik Bulters
    • , Neil Kitchen
    • , Martin Brown
    • , Joan Grieve
    • , Martin Dichgans
    • , Gregory T. Jones
    • , Matthew J. Bown
    • , Nerissa U. Ko
    • , Helen Kim
    • , Jonathan R. I. Coleman
    • , Gerome Breen
    • , Jonathan G. Zaroff
    • , Catharina J. M. Klijn
    • , Rainer Malik
    • , Martin Dichgans
    • , Muralidharan Sargurupremraj
    • , Turgut Tatlisumak
    • , Philippe Amouyel
    • , Stéphanie Debette
    • , Gabriel J. E. Rinkel
    • , Bradford B. Worrall
    • , Joanna Pera
    • , Agnieszka Slowik
    • , Emília I. Gaál-Paavola
    • , Mika Niemelä
    • , Juha E. Jääskeläinen
    • , Mikael von Und Zu Fraunberg
    • , Antti Lindgren
    • , Joseph P. Broderick
    • , David J. Werring
    • , Daniel Woo
    • , Richard Redon
    • , Philippe Bijlenga
    • , Yoichiro Kamatani
    • , Jan H. Veldink
    •  & Ynte M. Ruigrok
  • Article |

    PolyFun is a computationally scalable framework for functionally informed fine-mapping that makes full use of genome-wide data. It prioritizes more variants than previous methods when applied to 49 complex traits from UK Biobank.

    • Omer Weissbrod
    • , Farhad Hormozdiari
    • , Christian Benner
    • , Ran Cui
    • , Jacob Ulirsch
    • , Steven Gazal
    • , Armin P. Schoech
    • , Bryce van de Geijn
    • , Yakir Reshef
    • , Carla Márquez-Luna
    • , Luke O’Connor
    • , Matti Pirinen
    • , Hilary K. Finucane
    •  & Alkes L. Price
  • Article |

    MLL4 (KMT2D) loss of function, as found in Kabuki syndrome, affects the chromatin compartmentalization of Polycomb proteins and changes the nuclear architecture. Inhibition of ATR reestablishes mechanosignaling of mutant mesenchymal stem cells and their commitment to becoming chondrocytes.

    • Alessandra Fasciani
    • , Sarah D’Annunzio
    • , Vittoria Poli
    • , Luca Fagnocchi
    • , Sven Beyes
    • , Daniela Michelatti
    • , Francesco Corazza
    • , Laura Antonelli
    • , Francesco Gregoretti
    • , Gennaro Oliva
    • , Romina Belli
    • , Daniele Peroni
    • , Enrico Domenici
    • , Samuel Zambrano
    • , Daniela Intartaglia
    • , Carmine Settembre
    • , Ivan Conte
    • , Claudia Testi
    • , Panagiotis Vergyris
    • , Giancarlo Ruocco
    •  & Alessio Zippo
  • Obituary |

    On 16 September 2020, when the news of José Luis Gómez-Skarmeta’s untimely passing broke, the scientific community was left in dismay.

    • Ozren Bogdanovic
    •  & Manuel Irimia
  • Article |

    A BAH module in BAHCC1 recognizes H3K27me3 and is involved in gene silencing. BAHCC1 is highly expressed in acute leukemia cells and contributes to their proliferation.

    • Huitao Fan
    • , Jiuwei Lu
    • , Yiran Guo
    • , Dongxu Li
    • , Zhi-Min Zhang
    • , Yi-Hsuan Tsai
    • , Wen-Chieh Pi
    • , Jeong Hyun Ahn
    • , Weida Gong
    • , Yu Xiang
    • , David F. Allison
    • , Huimin Geng
    • , Shenghui He
    • , Yarui Diao
    • , Wei-Yi Chen
    • , Brian D. Strahl
    • , Ling Cai
    • , Jikui Song
    •  & Gang Greg Wang
  • Article
    | Open Access

    Phased diploid genomes of the cultivated apple Malus domestica cv. Gala and its two major wild progenitors M. sieversii and M. sylvestris, as well as pan-genome analyses, provide insights into the genetic history of apple domestication.

    • Xuepeng Sun
    • , Chen Jiao
    • , Heidi Schwaninger
    • , C. Thomas Chao
    • , Yumin Ma
    • , Naibin Duan
    • , Awais Khan
    • , Seunghyun Ban
    • , Kenong Xu
    • , Lailiang Cheng
    • , Gan-Yuan Zhong
    •  & Zhangjun Fei
  • World View |

    Given an opportunity to chronicle the experience of traversing America as a Black man, I elect to convey a less frequently told vantage point. This is the perspective of the ‘accomplished’ bootless.

    • Russell J. Ledet
  • News & Views |

    Patterns of co-occurring and mutually exclusive mutations reveal synergistic interactions among cancer driver genes. A new study functionally confirms these interactions and builds the pairwise relationships into networks of pathway disruption that have better predictive power than specific mutations alone.

    • Martin S. Taylor
  • News & Views |

    In a classical view of carcinogenesis, carcinogens directly cause mutations. In this issue, Riva et al. explore the effects of 20 known or suspected human carcinogens and find discernible mutational signatures for only three of them.

    • Nuria Lopez-Bigas
    •  & Abel Gonzalez-Perez
  • Technical Report |

    PolyGembler, a method for grouping and ordering contigs into complete pseudomolecules by combining long-read sequencing and genotype information from an outbred mapping population, improves the accuracy for assembly of polyploidy plant genomes.

    • Chenxi Zhou
    • , Bode Olukolu
    • , Dorcus C. Gemenet
    • , Shan Wu
    • , Wolfgang Gruneberg
    • , Minh Duc Cao
    • , Zhangjun Fei
    • , Zhao-Bang Zeng
    • , Andrew W. George
    • , Awais Khan
    • , G. Craig Yencho
    •  & Lachlan J. M. Coin
  • Article |

    Single-cell RNA-seq of a collection of 200 cancer cell lines finds common, recurrent heterogeneous expression programs, which also are found in patient samples and are linked to cell state and drug sensitivity.

    • Gabriela S. Kinker
    • , Alissa C. Greenwald
    • , Rotem Tal
    • , Zhanna Orlova
    • , Michael S. Cuoco
    • , James M. McFarland
    • , Allison Warren
    • , Christopher Rodman
    • , Jennifer A. Roth
    • , Samantha A. Bender
    • , Bhavna Kumar
    • , James W. Rocco
    • , Pedro A. C. M. Fernandes
    • , Christopher C. Mader
    • , Hadas Keren-Shaul
    • , Alexander Plotnikov
    • , Haim Barr
    • , Aviad Tsherniak
    • , Orit Rozenblatt-Rosen
    • , Valery Krizhanovsky
    • , Sidharth V. Puram
    • , Aviv Regev
    •  & Itay Tirosh
  • Article |

    Environmental exposures shape patterns of selection for mutations in clonal hematopoiesis. Cancer therapies promote the growth of clones with mutations that are strongly enriched in treatment-related myeloid neoplasms.

    • Kelly L. Bolton
    • , Ryan N. Ptashkin
    • , Teng Gao
    • , Lior Braunstein
    • , Sean M. Devlin
    • , Daniel Kelly
    • , Minal Patel
    • , Antonin Berthon
    • , Aijazuddin Syed
    • , Mariko Yabe
    • , Catherine C. Coombs
    • , Nicole M. Caltabellotta
    • , Mike Walsh
    • , Kenneth Offit
    • , Zsofia Stadler
    • , Diana Mandelker
    • , Jessica Schulman
    • , Akshar Patel
    • , John Philip
    • , Elsa Bernard
    • , Gunes Gundem
    • , Juan E. Arango Ossa
    • , Max Levine
    • , Juan S. Medina Martinez
    • , Noushin Farnoud
    • , Dominik Glodzik
    • , Sonya Li
    • , Mark E. Robson
    • , Choonsik Lee
    • , Paul D. P. Pharoah
    • , Konrad H. Stopsack
    • , Barbara Spitzer
    • , Simon Mantha
    • , James Fagin
    • , Laura Boucai
    • , Christopher J. Gibson
    • , Benjamin L. Ebert
    • , Andrew L. Young
    • , Todd Druley
    • , Koichi Takahashi
    • , Nancy Gillis
    • , Markus Ball
    • , Eric Padron
    • , David M. Hyman
    • , Jose Baselga
    • , Larry Norton
    • , Stuart Gardos
    • , Virginia M. Klimek
    • , Howard Scher
    • , Dean Bajorin
    • , Eder Paraiso
    • , Ryma Benayed
    • , Maria E. Arcila
    • , Marc Ladanyi
    • , David B. Solit
    • , Michael F. Berger
    • , Martin Tallman
    • , Montserrat Garcia-Closas
    • , Nilanjan Chatterjee
    • , Luis A. Diaz Jr
    • , Ross L. Levine
    • , Lindsay M. Morton
    • , Ahmet Zehir
    •  & Elli Papaemmanuil
  • Article |

    Whole-genome sequencing of wheat populations from 25 subspecies within the genera Triticum and Aegilops provides insights into the role of evolutionary constraints in shaping the adaptive landscape of bread wheat.

    • Yao Zhou
    • , Xuebo Zhao
    • , Yiwen Li
    • , Jun Xu
    • , Aoyue Bi
    • , Lipeng Kang
    • , Daxing Xu
    • , Haofeng Chen
    • , Ying Wang
    • , Yuan-ge Wang
    • , Sanyang Liu
    • , Chengzhi Jiao
    • , Hongfeng Lu
    • , Jing Wang
    • , Changbin Yin
    • , Yuling Jiao
    •  & Fei Lu