Browse Articles

  • Author Correction |

    • Andrea Cortese
    • , Yi Zhu
    • , Adriana P. Rebelo
    • , Sara Negri
    • , Steve Courel
    • , Lisa Abreu
    • , Chelsea J. Bacon
    • , Yunhong Bai
    • , Dana M. Bis-Brewer
    • , Enrico Bugiardini
    • , Elena Buglo
    • , Matt C. Danzi
    • , Shawna M. E. Feely
    • , Alkyoni Athanasiou-Fragkouli
    • , Nourelhoda A. Haridy
    • , Aixa Rodriguez
    • , Alexa Bacha
    • , Ashley Kosikowski
    • , Beth Wood
    • , Brett McCray
    • , Brianna Blume
    • , Carly Siskind
    • , Charlotte Sumner
    • , Daniela Calabrese
    • , David Walk
    • , Dragan Vujovic
    • , Eun Park
    • , Francesco Muntoni
    • , Gabrielle Donlevy
    • , Gyula Acsadi
    • , John Day
    • , Joshua Burns
    • , Jun Li
    • , Karen Krajewski
    • , Kate Eichinger
    • , Kayla Cornett
    • , Krista Mullen
    • , Perez Quiros Laura
    • , Laurie Gutmann
    • , Maria Barrett
    • , Mario Saporta
    • , Mariola Skorupinska
    • , Natalie Grant
    • , Paula Bray
    • , Reza Seyedsadjadi
    • , Riccardo Zuccarino
    • , Richard Finkel
    • , Richard Lewis
    • , Sabrina Yum
    • , Sarah Hilbert
    • , Simone Thomas
    • , Steffen Behrens-Spraggins
    • , Tara Jones
    • , Thomas Lloyd
    • , Tiffany Grider
    • , Tim Estilow
    • , Vera Fridman
    • , Rosario Isasi
    • , Alaa Khan
    • , Matilde Laurà
    • , Stefania Magri
    • , Menelaos Pipis
    • , Chiara Pisciotta
    • , Eric Powell
    • , Alexander M. Rossor
    • , Paola Saveri
    • , Janet E. Sowden
    • , Stefano Tozza
    • , Jana Vandrovcova
    • , Julia Dallman
    • , Elena Grignani
    • , Enrico Marchioni
    • , Steven S. Scherer
    • , Beisha Tang
    • , Zhiqiang Lin
    • , Abdullah Al-Ajmi
    • , Rebecca Schüle
    • , Matthis Synofzik
    • , Thierry Maisonobe
    • , Tanya Stojkovic
    • , Michaela Auer-Grumbach
    • , Mohamed A. Abdelhamed
    • , Sherifa A. Hamed
    • , Ruxu Zhang
    • , Fiore Manganelli
    • , Lucio Santoro
    • , Franco Taroni
    • , Davide Pareyson
    • , Henry Houlden
    • , David N. Herrmann
    • , Mary M. Reilly
    • , Michael E. Shy
    • , R. Grace Zhai
    •  & Stephan Zuchner
  • Article |

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

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

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

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

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

    • Kamila Naxerova
  • Article |

    Deep sequencing and lineage tracing analysis of esophageal epithelium of mutagen-treated aging mice leads to a model in which the proliferative advantage of positively selected mutations depends on the competitive fitness of neighboring cells.

    • Bartomeu Colom
    • , Maria P. Alcolea
    • , Gabriel Piedrafita
    • , Michael W. J. Hall
    • , Agnieszka Wabik
    • , Stefan C. Dentro
    • , Joanna C. Fowler
    • , Albert Herms
    • , Charlotte King
    • , Swee Hoe Ong
    • , Roshan K. Sood
    • , Moritz Gerstung
    • , Inigo Martincorena
    • , Benjamin A. Hall
    •  & Philip H. Jones
  • Letter |

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

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

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

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

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

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

    • Isidro Cortés-Ciriano
    • , Jake June-Koo Lee
    • , Ruibin Xi
    • , Dhawal Jain
    • , Youngsook L. Jung
    • , Lixing Yang
    • , Dmitry Gordenin
    • , Leszek J. Klimczak
    • , Cheng-Zhong Zhang
    • , David S. Pellman
    • , Kadir C. Akdemir
    • , Eva G. Alvarez
    • , Adrian Baez-Ortega
    • , Rameen Beroukhim
    • , Paul C. Boutros
    • , David D. L. Bowtell
    • , Benedikt Brors
    • , Kathleen H. Burns
    • , Peter J. Campbell
    • , Kin Chan
    • , Ken Chen
    • , Isidro Cortés-Ciriano
    • , Ana Dueso-Barroso
    • , Andrew J. Dunford
    • , Paul A. Edwards
    • , Xavier Estivill
    • , Dariush Etemadmoghadam
    • , Lars Feuerbach
    • , J. Lynn Fink
    • , Milana Frenkel-Morgenstern
    • , Dale W. Garsed
    • , Mark Gerstein
    • , Dmitry A. Gordenin
    • , David Haan
    • , James E. Haber
    • , Julian M. Hess
    • , Barbara Hutter
    • , Marcin Imielinski
    • , David T. W. Jones
    • , Young Seok Ju
    • , Marat D. Kazanov
    • , Leszek J. Klimczak
    • , Youngil Koh
    • , Jan O. Korbel
    • , Kiran Kumar
    • , Eunjung Alice Lee
    • , Jake June-Koo Lee
    • , Yilong Li
    • , Andy G. Lynch
    • , Geoff Macintyre
    • , Florian Markowetz
    • , Iñigo Martincorena
    • , Alexander Martinez-Fundichely
    • , Satoru Miyano
    • , Hidewaki Nakagawa
    • , Fabio C. P. Navarro
    • , Stephan Ossowski
    • , Peter J. Park
    • , John V. Pearson
    • , Montserrat Puiggròs
    • , Karsten Rippe
    • , Nicola D. Roberts
    • , Steven A. Roberts
    • , Bernardo Rodriguez-Martin
    • , Steven E. Schumacher
    • , Ralph Scully
    • , Mark Shackleton
    • , Nikos Sidiropoulos
    • , Lina Sieverling
    • , Chip Stewart
    • , David Torrents
    • , Jose M. C. Tubio
    • , Izar Villasante
    • , Nicola Waddell
    • , Jeremiah A. Wala
    • , Joachim Weischenfeldt
    • , Lixing Yang
    • , Xiaotong Yao
    • , Sung-Soo Yoon
    • , Jorge Zamora
    • , Cheng-Zhong Zhang
    •  & Peter J. Park
  • Article |

    A CRISPR screen for MLL2-dependent transcription identifies a compensatory repressive mechanism involving PRC2 and DNA methylation. PRC2 inactivation or DNA demethylation activates gene expression in the absence of H3K4me3.

    • Delphine Douillet
    • , Christie C. Sze
    • , Caila Ryan
    • , Andrea Piunti
    • , Avani P. Shah
    • , Michal Ugarenko
    • , Stacy A. Marshall
    • , Emily J. Rendleman
    • , Didi Zha
    • , Kathryn A. Helmin
    • , Zibo Zhao
    • , Kaixiang Cao
    • , Marc A. Morgan
    • , Benjamin D. Singer
    • , Elizabeth T. Bartom
    • , Edwin R. Smith
    •  & Ali Shilatifard
  • Editorial |

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

  • News & Views |

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

    • Douglas R. Higgs
  • News & Views |

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

    • Eva Morava
  • Article |

    Biallelic mutations in the sorbitol dehydrogenase gene SORD are identified as a common cause of hereditary neuropathy. Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors.

    • Andrea Cortese
    • , Yi Zhu
    • , Adriana P. Rebelo
    • , Sara Negri
    • , Steve Courel
    • , Lisa Abreu
    • , Chelsea J. Bacon
    • , Yunhong Bai
    • , Dana M. Bis-Brewer
    • , Enrico Bugiardini
    • , Elena Buglo
    • , Matt C. Danzi
    • , Shawna M. E. Feely
    • , Alkyoni Athanasiou-Fragkouli
    • , Nourelhoda A. Haridy
    • , Aixa Rodriguez
    • , Alexa Bacha
    • , Ashley Kosikowski
    • , Beth Wood
    • , Brett McCray
    • , Brianna Blume
    • , Carly Siskind
    • , Charlotte Sumner
    • , Daniela Calabrese
    • , David Walk
    • , Dragan Vujovic
    • , Eun Park
    • , Francesco Muntoni
    • , Gabrielle Donlevy
    • , Gyula Acsadi
    • , John Day
    • , Joshua Burns
    • , Jun Li
    • , Karen Krajewski
    • , Kate Eichinger
    • , Kayla Cornett
    • , Krista Mullen
    • , Perez Quiros Laura
    • , Laurie Gutmann
    • , Maria Barrett
    • , Mario Saporta
    • , Mariola Skorupinska
    • , Natalie Grant
    • , Paula Bray
    • , Reza Seyedsadjadi
    • , Riccardo Zuccarino
    • , Richard Finkel
    • , Richard Lewis
    • , Rosemary R. Shy
    • , Sabrina Yum
    • , Sarah Hilbert
    • , Simone Thomas
    • , Steffen Behrens-Spraggins
    • , Tara Jones
    • , Thomas Lloyd
    • , Tiffany Grider
    • , Tim Estilow
    • , Vera Fridman
    • , Rosario Isasi
    • , Alaa Khan
    • , Matilde Laurà
    • , Stefania Magri
    • , Menelaos Pipis
    • , Chiara Pisciotta
    • , Eric Powell
    • , Alexander M. Rossor
    • , Paola Saveri
    • , Janet E. Sowden
    • , Stefano Tozza
    • , Jana Vandrovcova
    • , Julia Dallman
    • , Elena Grignani
    • , Enrico Marchioni
    • , Steven S. Scherer
    • , Beisha Tang
    • , Zhiqiang Lin
    • , Abdullah Al-Ajmi
    • , Rebecca Schüle
    • , Matthis Synofzik
    • , Thierry Maisonobe
    • , Tanya Stojkovic
    • , Michaela Auer-Grumbach
    • , Mohamed A. Abdelhamed
    • , Sherifa A. Hamed
    • , Ruxu Zhang
    • , Fiore Manganelli
    • , Lucio Santoro
    • , Franco Taroni
    • , Davide Pareyson
    • , Henry Houlden
    • , David N. Herrmann
    • , Mary M. Reilly
    • , Michael E. Shy
    • , R. Grace Zhai
    •  & Stephan Zuchner
  • Article |

    Integration of GWAS and single-cell transcriptomic data from the entire nervous system systematically identifies cell types underlying brain complex traits and provides insights into the etiology of Parkinson’s disease.

    • Julien Bryois
    • , Nathan G. Skene
    • , Thomas Folkmann Hansen
    • , Lisette J. A. Kogelman
    • , Hunna J. Watson
    • , Zijing Liu
    • , Roger Adan
    • , Lars Alfredsson
    • , Tetsuya Ando
    • , Ole Andreassen
    • , Jessica Baker
    • , Andrew Bergen
    • , Wade Berrettini
    • , Andreas Birgegård
    • , Joseph Boden
    • , Ilka Boehm
    • , Claudette Boni
    • , Vesna Boraska Perica
    • , Harry Brandt
    • , Gerome Breen
    • , Julien Bryois
    • , Katharina Buehren
    • , Cynthia Bulik
    • , Roland Burghardt
    • , Matteo Cassina
    • , Sven Cichon
    • , Maurizio Clementi
    • , Jonathan Coleman
    • , Roger Cone
    • , Philippe Courtet
    • , Steven Crawford
    • , Scott Crow
    • , James Crowley
    • , Unna Danner
    • , Oliver Davis
    • , Martina de Zwaan
    • , George Dedoussis
    • , Daniela Degortes
    • , Janiece DeSocio
    • , Danielle Dick
    • , Dimitris Dikeos
    • , Christian Dina
    • , Monika Dmitrzak-Weglarz
    • , Elisa Docampo Martinez
    • , Laramie Duncan
    • , Karin Egberts
    • , Stefan Ehrlich
    • , Geòrgia Escaramís
    • , Tõnu Esko
    • , Xavier Estivill
    • , Anne Farmer
    • , Angela Favaro
    • , Fernando Fernández-Aranda
    • , Manfred Fichter
    • , Krista Fischer
    • , Manuel Föcker
    • , Lenka Foretova
    • , Andreas Forstner
    • , Monica Forzan
    • , Christopher Franklin
    • , Steven Gallinger
    • , Héléna Gaspar
    • , Ina Giegling
    • , Johanna Giuranna
    • , Paola Giusti-Rodríquez
    • , Fragiskos Gonidakis
    • , Scott Gordon
    • , Philip Gorwood
    • , Monica Gratacos Mayora
    • , Jakob Grove
    • , Sébastien Guillaume
    • , Yiran Guo
    • , Hakon Hakonarson
    • , Katherine Halmi
    • , Ken Hanscombe
    • , Konstantinos Hatzikotoulas
    • , Joanna Hauser
    • , Johannes Hebebrand
    • , Sietske Helder
    • , Anjali Henders
    • , Stefan Herms
    • , Beate Herpertz-Dahlmann
    • , Wolfgang Herzog
    • , Anke Hinney
    • , L. John Horwood
    • , Christopher Hübel
    • , Laura Huckins
    • , James Hudson
    • , Hartmut Imgart
    • , Hidetoshi Inoko
    • , Vladimir Janout
    • , Susana Jiménez-Murcia
    • , Craig Johnson
    • , Jennifer Jordan
    • , Antonio Julià
    • , Anders Juréus
    • , Gursharan Kalsi
    • , Deborah Kaminská
    • , Allan Kaplan
    • , Jaakko Kaprio
    • , Leila Karhunen
    • , Andreas Karwautz
    • , Martien Kas
    • , Walter Kaye
    • , James Kennedy
    • , Martin Kennedy
    • , Anna Keski-Rahkonen
    • , Kirsty Kiezebrink
    • , Youl-Ri Kim
    • , Katherine Kirk
    • , Lars Klareskog
    • , Kelly Klump
    • , Gun Peggy Knudsen
    • , Maria La Via
    • , Mikael Landén
    • , Janne Larsen
    • , Stephanie Le Hellard
    • , Virpi Leppä
    • , Robert Levitan
    • , Dong Li
    • , Paul Lichtenstein
    • , Lisa Lilenfeld
    • , Bochao Danae Lin
    • , Jolanta Lissowska
    • , Jurjen Luykx
    • , Pierre Magistretti
    • , Mario Maj
    • , Katrin Mannik
    • , Sara Marsal
    • , Christian Marshall
    • , Nicholas Martin
    • , Manuel Mattheisen
    • , Morten Mattingsdal
    • , Sara McDevitt
    • , Peter McGuffin
    • , Sarah Medland
    • , Andres Metspalu
    • , Ingrid Meulenbelt
    • , Nadia Micali
    • , James Mitchell
    • , Karen Mitchell
    • , Palmiero Monteleone
    • , Alessio Maria Monteleone
    • , Grant Montgomery
    • , Preben Bo Mortensen
    • , Melissa Munn-Chernoff
    • , Benedetta Nacmias
    • , Marie Navratilova
    • , Claes Norring
    • , Ioanna Ntalla
    • , Catherine Olsen
    • , Roel Ophoff
    • , Julie O’Toole
    • , Leonid Padyukov
    • , Aarno Palotie
    • , Jacques Pantel
    • , Hana Papezova
    • , Richard Parker
    • , John Pearson
    • , Nancy Pedersen
    • , Liselotte Petersen
    • , Dalila Pinto
    • , Kirstin Purves
    • , Raquel Rabionet
    • , Anu Raevuori
    • , Nicolas Ramoz
    • , Ted Reichborn-Kjennerud
    • , Valdo Ricca
    • , Samuli Ripatti
    • , Stephan Ripke
    • , Franziska Ritschel
    • , Marion Roberts
    • , Alessandro Rotondo
    • , Dan Rujescu
    • , Filip Rybakowski
    • , Paolo Santonastaso
    • , André Scherag
    • , Stephen Scherer
    • , Ulrike Schmidt
    • , Nicholas Schork
    • , Alexandra Schosser
    • , Jochen Seitz
    • , Lenka Slachtova
    • , P. Eline Slagboom
    • , Margarita Slof-Op ‘t Landt
    • , Agnieszka Slopien
    • , Sandro Sorbi
    • , Michael Strober
    • , Garret Stuber
    • , Patrick Sullivan
    • , Beata Świątkowska
    • , Jin Szatkiewicz
    • , Ioanna Tachmazidou
    • , Elena Tenconi
    • , Laura Thornton
    • , Alfonso Tortorella
    • , Federica Tozzi
    • , Janet Treasure
    • , Artemis Tsitsika
    • , Marta Tyszkiewicz-Nwafor
    • , Konstantinos Tziouvas
    • , Annemarie van Elburg
    • , Eric van Furth
    • , Tracey Wade
    • , Gudrun Wagner
    • , Esther Walton
    • , Hunna Watson
    • , Thomas Werge
    • , David Whiteman
    • , Elisabeth Widen
    • , D. Blake Woodside
    • , Shuyang Yao
    • , Zeynep Yilmaz
    • , Eleftheria Zeggini
    • , Stephanie Zerwas
    • , Stephan Zipfel
    • , Verneri Anttila
    • , Ville Artto
    • , Andrea Carmine Belin
    • , Irene de Boer
    • , Dorret I. Boomsma
    • , Sigrid Børte
    • , Daniel I. Chasman
    • , Lynn Cherkas
    • , Anne Francke Christensen
    • , Bru Cormand
    • , Ester Cuenca-Leon
    • , George Davey-Smith
    • , Martin Dichgans
    • , Cornelia van Duijn
    • , Tonu Esko
    • , Ann Louise Esserlind
    • , Michel Ferrari
    • , Rune R. Frants
    • , Tobias Freilinger
    • , Nick Furlotte
    • , Padhraig Gormley
    • , Lyn Griffiths
    • , Eija Hamalainen
    • , Thomas Folkmann Hansen
    • , Marjo Hiekkala
    • , M. Arfan Ikram
    • , Andres Ingason
    • , Marjo-Riitta Järvelin
    • , Risto Kajanne
    • , Mikko Kallela
    • , Jaakko Kaprio
    • , Mari Kaunisto
    • , Lisette J. A. Kogelman
    • , Christian Kubisch
    • , Mitja Kurki
    • , Tobias Kurth
    • , Lenore Launer
    • , Terho Lehtimaki
    • , Davor Lessel
    • , Lannie Ligthart
    • , Nadia Litterman
    • , Arn van den Maagdenberg
    • , Alfons Macaya
    • , Rainer Malik
    • , Massimo Mangino
    • , George McMahon
    • , Bertram Muller-Myhsok
    • , Benjamin M. Neale
    • , Carrie Northover
    • , Dale R. Nyholt
    • , Jes Olesen
    • , Aarno Palotie
    • , Priit Palta
    • , Linda Pedersen
    • , Nancy Pedersen
    • , Danielle Posthuma
    • , Patricia Pozo-Rosich
    • , Alice Pressman
    • , Olli Raitakari
    • , Markus Schürks
    • , Celia Sintas
    • , Kari Stefansson
    • , Hreinn Stefansson
    • , Stacy Steinberg
    • , David Strachan
    • , Gisela Terwindt
    • , Marta Vila-Pueyo
    • , Maija Wessman
    • , Bendik S. Winsvold
    • , Huiying Zhao
    • , John Anker Zwart
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert Bell
    • , Katarzyna Bryc
    • , Sarah Elson
    • , Pierre Fontanillas
    • , Nicholas Furlotte
    • , Karl Heilbron
    • , David Hinds
    • , Karen Huber
    • , Aaron Kleinman
    • , Nadia Litterman
    • , Jennifer McCreight
    • , Matthew McIntyre
    • , Joanna Mountain
    • , Elizabeth Noblin
    • , Carrie Northover
    • , Steven Pitts
    • , J. Sathirapongsasuti
    • , Olga Sazonova
    • , Janie Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Tung
    • , Vladimir Vacic
    • , Catherine Wilson
    • , Leo Brueggeman
    • , Gerome Breen
    • , Cynthia M. Bulik
    • , Ernest Arenas
    • , Jens Hjerling-Leffler
    •  & Patrick F. Sullivan
  • Letter |

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

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

    Meta-analysis of 36,760 cases and 375,188 controls identifies 54 loci associated with susceptibility to cutaneous melanoma. Further analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma.

    • Maria Teresa Landi
    • , D. Timothy Bishop
    • , Stuart MacGregor
    • , Mitchell J. Machiela
    • , Alexander J. Stratigos
    • , Paola Ghiorzo
    • , Myriam Brossard
    • , Donato Calista
    • , Jiyeon Choi
    • , Maria Concetta Fargnoli
    • , Tongwu Zhang
    • , Monica Rodolfo
    • , Adam J. Trower
    • , Chiara Menin
    • , Jacobo Martinez
    • , Andreas Hadjisavvas
    • , Lei Song
    • , Irene Stefanaki
    • , Richard Scolyer
    • , Rose Yang
    • , Alisa M. Goldstein
    • , Miriam Potrony
    • , Katerina P. Kypreou
    • , Lorenza Pastorino
    • , Paola Queirolo
    • , Cristina Pellegrini
    • , Laura Cattaneo
    • , Matthew Zawistowski
    • , Pol Gimenez-Xavier
    • , Arantxa Rodriguez
    • , Lisa Elefanti
    • , Siranoush Manoukian
    • , Licia Rivoltini
    • , Blair H. Smith
    • , Maria A. Loizidou
    • , Laura Del Regno
    • , Daniela Massi
    • , Mario Mandala
    • , Kiarash Khosrotehrani
    • , Lars A. Akslen
    • , Christopher I. Amos
    • , Per A. Andresen
    • , Marie-Françoise Avril
    • , Esther Azizi
    • , H. Peter Soyer
    • , Veronique Bataille
    • , Bruna Dalmasso
    • , Lisa M. Bowdler
    • , Kathryn P. Burdon
    • , Wei V. Chen
    • , Veryan Codd
    • , Jamie E. Craig
    • , Tadeusz Dębniak
    • , Mario Falchi
    • , Shenying Fang
    • , Eitan Friedman
    • , Sarah Simi
    • , Pilar Galan
    • , Zaida Garcia-Casado
    • , Elizabeth M. Gillanders
    • , Scott Gordon
    • , Adele Green
    • , Nelleke A. Gruis
    • , Johan Hansson
    • , Mark Harland
    • , Jessica Harris
    • , Per Helsing
    • , Anjali Henders
    • , Marko Hočevar
    • , Veronica Höiom
    • , David Hunter
    • , Christian Ingvar
    • , Rajiv Kumar
    • , Julie Lang
    • , G. Mark Lathrop
    • , Jeffrey E. Lee
    • , Xin Li
    • , Jan Lubiński
    • , Rona M. Mackie
    • , Maryrose Malt
    • , Josep Malvehy
    • , Kerrie McAloney
    • , Hamida Mohamdi
    • , Anders Molven
    • , Eric K. Moses
    • , Rachel E. Neale
    • , Srdjan Novaković
    • , Dale R. Nyholt
    • , Håkan Olsson
    • , Nicholas Orr
    • , Lars G. Fritsche
    • , Joan Anton Puig-Butille
    • , Abrar A. Qureshi
    • , Graham L. Radford-Smith
    • , Juliette Randerson-Moor
    • , Celia Requena
    • , Casey Rowe
    • , Nilesh J. Samani
    • , Marianna Sanna
    • , Dirk Schadendorf
    • , Hans-Joachim Schulze
    • , Lisa A. Simms
    • , Mark Smithers
    • , Fengju Song
    • , Anthony J. Swerdlow
    • , Nienke van der Stoep
    • , Nicole A. Kukutsch
    • , Alessia Visconti
    • , Leanne Wallace
    • , Sarah V. Ward
    • , Lawrie Wheeler
    • , Richard A. Sturm
    • , Amy Hutchinson
    • , Kristine Jones
    • , Michael Malasky
    • , Aurelie Vogt
    • , Weiyin Zhou
    • , Karen A. Pooley
    • , David E. Elder
    • , Jiali Han
    • , Belynda Hicks
    • , Nicholas K. Hayward
    • , Peter A. Kanetsky
    • , Chad Brummett
    • , Grant W. Montgomery
    • , Catherine M. Olsen
    • , Caroline Hayward
    • , Alison M. Dunning
    • , Nicholas G. Martin
    • , Evangelos Evangelou
    • , Graham J. Mann
    • , Georgina Long
    • , Paul D. P. Pharoah
    • , Douglas F. Easton
    • , Jennifer H. Barrett
    • , Anne E. Cust
    • , Goncalo Abecasis
    • , David L. Duffy
    • , David C. Whiteman
    • , Helen Gogas
    • , Arcangela De Nicolo
    • , Margaret A. Tucker
    • , Julia A. Newton-Bishop
    • , Ketty Peris
    • , Stephen J. Chanock
    • , Florence Demenais
    • , Kevin M. Brown
    • , Susana Puig
    • , Eduardo Nagore
    • , Jianxin Shi
    • , Mark M. Iles
    •  & Matthew H. Law
  • Article
    | Open Access

    Sequencing and genomic diversification of five allopolyploid cotton species provide insights into polyploid genome evolution and epigenetic landscapes for cotton improvement.

    • Z. Jeffrey Chen
    • , Avinash Sreedasyam
    • , Atsumi Ando
    • , Qingxin Song
    • , Luis M. De Santiago
    • , Amanda M. Hulse-Kemp
    • , Mingquan Ding
    • , Wenxue Ye
    • , Ryan C. Kirkbride
    • , Jerry Jenkins
    • , Christopher Plott
    • , John Lovell
    • , Yu-Ming Lin
    • , Robert Vaughn
    • , Bo Liu
    • , Sheron Simpson
    • , Brian E. Scheffler
    • , Li Wen
    • , Christopher A. Saski
    • , Corrinne E. Grover
    • , Guanjing Hu
    • , Justin L. Conover
    • , Joseph W. Carlson
    • , Shengqiang Shu
    • , Lori B. Boston
    • , Melissa Williams
    • , Daniel G. Peterson
    • , Keith McGee
    • , Don C. Jones
    • , Jonathan F. Wendel
    • , David M. Stelly
    • , Jane Grimwood
    •  & Jeremy Schmutz
  • Article
    | Open Access

    Assembly of the first Gossypium herbaceum genome and improved Gossypium arboreum and Gossypium hirsutum genomes provide insights into the phylogenetic relationships and origin history of cotton A-genomes.

    • Gai Huang
    • , Zhiguo Wu
    • , Richard G. Percy
    • , Mingzhou Bai
    • , Yang Li
    • , James E. Frelichowski
    • , Jiang Hu
    • , Kun Wang
    • , John Z. Yu
    •  & Yuxian Zhu
  • Article |

    Depletion of RNA polymerase II pausing and elongation factor Spt5 in B cells indicates that ~50% of enhancer–gene pairs show co-regulated transcription. CRISPRa-mediated rescue of enhancer transcription in Spt5-depleted cells restores Igh gene expression.

    • Johanna Fitz
    • , Tobias Neumann
    • , Monika Steininger
    • , Eva-Maria Wiedemann
    • , Adriana Cantoran Garcia
    • , Alexander Athanasiadis
    • , Ursula E. Schoeberl
    •  & Rushad Pavri
  • Editorial |

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

  • News & Views |

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

    • Charles Y. Lin
  • Analysis
    | Open Access

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

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

    Whole-genome resequencing and association analyses in 424 soybean accessions identify two homeologous genes that contributed to flowering time adaptation during soybean domestication.

    • Sijia Lu
    • , Lidong Dong
    • , Chao Fang
    • , Shulin Liu
    • , Lingping Kong
    • , Qun Cheng
    • , Liyu Chen
    • , Tong Su
    • , Haiyang Nan
    • , Dan Zhang
    • , Lei Zhang
    • , Zhijuan Wang
    • , Yongqing Yang
    • , Deyue Yu
    • , Xiaolei Liu
    • , Qingyong Yang
    • , Xiaoya Lin
    • , Yang Tang
    • , Xiaohui Zhao
    • , Xinquan Yang
    • , Changen Tian
    • , Qiguang Xie
    • , Xia Li
    • , Xiaohui Yuan
    • , Zhixi Tian
    • , Baohui Liu
    • , James L. Weller
    •  & Fanjiang Kong
  • Article |

    Meta-analysis of genome-wide association studies of 542,934 individuals identifies 336 novel loci associated with refractive error and implicates eye development, circadian rhythm and pigmentation pathways in controlling myopia.

    • Pirro G. Hysi
    • , Hélène Choquet
    • , Anthony P. Khawaja
    • , Robert Wojciechowski
    • , Milly S. Tedja
    • , Jie Yin
    • , Mark J. Simcoe
    • , Karina Patasova
    • , Omar A. Mahroo
    • , Khanh K. Thai
    • , Phillippa M. Cumberland
    • , Ronald B. Melles
    • , Virginie J. M. Verhoeven
    • , Veronique Vitart
    • , Ayellet Segre
    • , Richard A. Stone
    • , Nick Wareham
    • , Alex W. Hewitt
    • , David A. Mackey
    • , Caroline C. W. Klaver
    • , Stuart MacGregor
    • , Peng T. Khaw
    • , Paul J. Foster
    • , Jeremy A. Guggenheim
    • , Jugnoo S. Rahi
    • , Eric Jorgenson
    •  & Christopher J. Hammond
  • Analysis |

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

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

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

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

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

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

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

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

    Single-cell analysis of mouse hematopoietic stem cells shows that mutations in DNA methylation genes change the frequencies of erythroid versus myelomonocytic progenitors, owing to differential CpG enrichment in transcription factor binding motifs.

    • Franco Izzo
    • , Stanley C. Lee
    • , Asaf Poran
    • , Ronan Chaligne
    • , Federico Gaiti
    • , Baptiste Gross
    • , Rekha R. Murali
    • , Sunil D. Deochand
    • , Chelston Ang
    • , Philippa Wyndham Jones
    • , Anna S. Nam
    • , Kyu-Tae Kim
    • , Steven Kothen-Hill
    • , Rafael C. Schulman
    • , Michelle Ki
    • , Priscillia Lhoumaud
    • , Jane A. Skok
    • , Aaron D. Viny
    • , Ross L. Levine
    • , Ephraim Kenigsberg
    • , Omar Abdel-Wahab
    •  & Dan A. Landau
  • Analysis |

    Assessing heritability models using summary statistics from genome-wide association studies of 31 human traits shows that the Baseline LD model is realistic and can be improved by incorporating features from the LDAK model.

    • Doug Speed
    • , John Holmes
    •  & David J. Balding
  • Article |

    Analysis of 3D chromatin architecture in T-ALL identifies differences in intra-TAD interactions and TAD boundary insulation. Inhibition of oncogenic signal transduction or epigenetic regulation can alter specific 3D interactions.

    • Andreas Kloetgen
    • , Palaniraja Thandapani
    • , Panagiotis Ntziachristos
    • , Yohana Ghebrechristos
    • , Sofia Nomikou
    • , Charalampos Lazaris
    • , Xufeng Chen
    • , Hai Hu
    • , Sofia Bakogianni
    • , Jingjing Wang
    • , Yi Fu
    • , Francesco Boccalatte
    • , Hua Zhong
    • , Elisabeth Paietta
    • , Thomas Trimarchi
    • , Yixing Zhu
    • , Pieter Van Vlierberghe
    • , Giorgio G. Inghirami
    • , Timothee Lionnet
    • , Iannis Aifantis
    •  & Aristotelis Tsirigos
  • Letter |

    Whole-exome sequencing of human brain metastases from lung adenocarcinoma uncovers new drivers by comparison of somatic alteration frequencies in brain metastasis cases to those in primary lung adenocarcinomas.

    • David J. H. Shih
    • , Naema Nayyar
    • , Ivanna Bihun
    • , Ibiayi Dagogo-Jack
    • , Corey M. Gill
    • , Elisa Aquilanti
    • , Mia Bertalan
    • , Alexander Kaplan
    • , Megan R. D’Andrea
    • , Ugonma Chukwueke
    • , Franziska Maria Ippen
    • , Christopher Alvarez-Breckenridge
    • , Nicholas D. Camarda
    • , Matthew Lastrapes
    • , Devin McCabe
    • , Ben Kuter
    • , Benjamin Kaufman
    • , Matthew R. Strickland
    • , Juan Carlos Martinez-Gutierrez
    • , Deepika Nagabhushan
    • , Magali De Sauvage
    • , Michael D. White
    • , Brandyn A. Castro
    • , Kaitlin Hoang
    • , Andrew Kaneb
    • , Emily D. Batchelor
    • , Sun Ha Paek
    • , Sun Hye Park
    • , Maria Martinez-Lage
    • , Anna S. Berghoff
    • , Parker Merrill
    • , Elizabeth R. Gerstner
    • , Tracy T. Batchelor
    • , Matthew P. Frosch
    • , Ryan P. Frazier
    • , Darrell R. Borger
    • , A. John Iafrate
    • , Bruce E. Johnson
    • , Sandro Santagata
    • , Matthias Preusser
    • , Daniel P. Cahill
    • , Scott L. Carter
    •  & Priscilla K. Brastianos
  • Article |

    CRISPR–Cas9 knockout screens in chemotherapy-treated acute myeloid leukemia cells help map the drug-dependent genetic basis of fitness trade-offs (antagonistic pleiotropy) for the design of evolutionary traps that target drug resistance in cancer.

    • Kevin H. Lin
    • , Justine C. Rutter
    • , Abigail Xie
    • , Bryann Pardieu
    • , Emily T. Winn
    • , Reinaldo Dal Bello
    • , Antoine Forget
    • , Raphael Itzykson
    • , Yeong-Ran Ahn
    • , Ziwei Dai
    • , Raiyan T. Sobhan
    • , Grace R. Anderson
    • , Katherine R. Singleton
    • , Amy E. Decker
    • , Peter S. Winter
    • , Jason W. Locasale
    • , Lorin Crawford
    • , Alexandre Puissant
    •  & Kris C. Wood
  • Article |

    An α-helical region conserved among FOXA pioneer factors interacts with core histones and promotes chromatin opening in vitro. This region also promotes chromatin opening in early mouse embryos and is required for normal development.

    • Makiko Iwafuchi
    • , Isabel Cuesta
    • , Greg Donahue
    • , Naomi Takenaka
    • , Anna B. Osipovich
    • , Mark A. Magnuson
    • , Heinrich Roder
    • , Steven H. Seeholzer
    • , Pilar Santisteban
    •  & Kenneth S. Zaret
  • Editorial |

    The Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium project, led by the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), coordinated the sequencing and analysis of 2,583 tumor whole genomes across 38 cancer types. This impressively large project, comprising many working groups focusing on various molecular or genetic features of cancer, has generated valuable data for the cancer research community that will continue to be mined for many years to come.

  • Article |

    Replacement of lysine 4 or 36 with alanine in histone H3.3 impairs ESC differentiation and induces widespread gene expression changes. Expression of H3.3K4A, but not H3.3K36A, leads to H3.3 depletion, reduces remodeler binding and increases RNA polymerase II activity.

    • Maja Gehre
    • , Daria Bunina
    • , Simone Sidoli
    • , Marlena J. Lübke
    • , Nichole Diaz
    • , Matteo Trovato
    • , Benjamin A. Garcia
    • , Judith B. Zaugg
    •  & Kyung-Min Noh
  • Article |

    Analysis of whole-genome doubling (WGD) by using cancer sequencing data combined with simulations of tumor evolution suggests that there is negative selection against homozygous loss of essential genes before WGD but not after.

    • Saioa López
    • , Emilia L. Lim
    • , Stuart Horswell
    • , Kerstin Haase
    • , Ariana Huebner
    • , Michelle Dietzen
    • , Thanos P. Mourikis
    • , Thomas B. K. Watkins
    • , Andrew Rowan
    • , Sally M. Dewhurst
    • , Nicolai J. Birkbak
    • , Gareth A. Wilson
    • , Peter Van Loo
    • , Mariam Jamal-Hanjani
    • , Charles Swanton
    • , Mariam Jamal-Hanjani
    • , Gareth A. Wilson
    • , Nicolai J. Birkbak
    • , Thomas B. K. Watkins
    • , Nicholas McGranahan
    • , Christopher Abbosh
    • , Rachel Rosenthal
    • , Yin Wu
    • , Mickael Escudero
    • , Aengus Stewart
    • , Andrew Rowan
    • , Jacki Goldman
    • , Selvaraju Veeriah
    • , Marcin Skrzypski
    • , Robert E. Hynds
    • , Andy Georgiou
    • , Mariana Werner Sunderland
    • , James Reading
    • , Sergio Quezada
    • , Karl Peggs
    • , Teresa Marafioti
    • , Peter Van Loo
    • , John A. Hartley
    • , Richard Kevin Stone
    • , Tamara Denner
    • , Emma Nye
    • , Sophia Ward
    • , Emilia L. Lim
    • , Stefan Boeing
    • , Maria Greco
    • , Maise Al-Bakir
    • , Kevin Litchfield
    • , Pat Gorman
    • , Helen L. Lowe
    • , Leah Ensell
    • , Victoria Spanswick
    • , Angeliki Karamani
    • , David Moore
    • , Dhruva Biswas
    • , Maryam Razaq
    • , Jerome Nicod
    • , Stephan Beck
    • , Ariana Huebner
    • , Michelle Dietzen
    • , Cristina Naceur-Lombardelli
    • , Mita Afroza Akther
    • , Haoran Zhai
    • , Nnennaya Kannu
    • , Elizabeth Manzano
    • , Clare Puttick
    • , Katey Enfield
    • , Emma Colliver
    • , Brittany Campbell
    • , Supreet Kaur Bola
    • , Ehsan Ghorani
    • , Marc Robert De Massy
    • , Elena Hoxha
    • , Emine Hatipoglu
    • , Stephanie Ogwuru
    • , Benny Chain
    • , Jason Lester
    • , Fiona Morgan
    • , Malgorzata Kornaszewska
    • , Richard Attanoos
    • , Haydn Adams
    • , Helen Davies
    • , Dean Fennell
    • , John Le Quesne
    • , Apostolos Nakas
    • , Sridhar Rathinam
    • , William Monteiro
    • , Hilary Marshall
    • , Louise Nelson
    • , Kim Ryanna
    • , Alan Dawson
    • , Mohamad Tuffail
    • , Amrita Bajaj
    • , Jan Brozik
    • , Mark R. Lovett
    • , Jacqui A. Shaw
    • , Joan Riley
    • , Lindsay Primrose
    • , Luke Martinson
    • , Nicolas Carey
    • , Girija Anand
    • , Sajid Khan
    • , Gillian Price
    • , Marianne Nicolson
    • , Keith Kerr
    • , Shirley Palmer
    • , Hardy Remmen
    • , Joy Miller
    • , Keith Buchan
    • , Mahendran Chetty
    • , Lesley Gomersall
    • , Sara Lock
    • , Kayleigh Gilbert
    • , Babu Naidu
    • , Gerald Langman
    • , Andrew Robinson
    • , Hollie Bancroft
    • , Amy Kerr
    • , Salma Kadiri
    • , Charlotte Ferris
    • , Gary Middleton
    • , Madava Djearaman
    • , Akshay Patel
    • , Yvonne Summers
    • , Raffaele Califano
    • , Paul Taylor
    • , Rajesh Shah
    • , Piotr Krysiak
    • , Kendadai Rammohan
    • , Eustace Fontaine
    • , Richard Booton
    • , Matthew Evison
    • , Phil Crosbie
    • , Stuart Moss
    • , Juliette Novasio
    • , Leena Joseph
    • , Paul Bishop
    • , Anshuman Chaturvedi
    • , Helen Doran
    • , Felice Granato
    • , Vijay Joshi
    • , Angela leek
    • , Phil Harrison
    • , Katrina Moore
    • , Rachael Waddington
    • , Fiona Blackhall
    • , Jane Rogan
    • , Elaine Smith
    • , Katie Baker
    • , Mathew Carter
    • , Lynsey Priest
    • , Matthew G. Krebs
    • , C. R. Lindsay
    • , Fabio Gomes
    • , Angeles Montero
    • , Caroline Dive
    • , Ged Brady
    • , Dominic G. Rothwell
    • , Francesca Chemi
    • , Jonathan Tugwood
    • , Jackie Pierce
    • , David Lawrence
    • , Martin Hayward
    • , Nikolaos Panagiotopoulos
    • , Robert George
    • , Davide Patrini
    • , Mary Falzon
    • , Elaine Borg
    • , Reena Khiroya
    • , Crispin Hiley
    • , Asia Ahmed
    • , Magali Taylor
    • , Junaid Choudhary
    • , Penny Shaw
    • , Sam M. Janes
    • , Martin Forster
    • , Tanya Ahmad
    • , Siow Ming Lee
    • , Javier Herrero
    • , Dawn Carnell
    • , Ruheena Mendes
    • , Jeremy George
    • , Neal Navani
    • , Dionysis Papadatos-Pastos
    • , Marco Scarci
    • , Roberto Salgado
    • , Elisa Bertoja
    • , Robert C. M. Stephens
    • , Emilie Martinoni Hoogenboom
    • , James W. Holding
    • , Steve Bandula
    • , Hugo Aerts
    • , Roland Schwarz
    • , Zoltan Szallasi
    • , Istvan Csabai
    • , Miklos Diossy
    • , Mairead MacKenzie
    • , Maggie Wilcox
    • , Allan Hackshaw
    • , Yenting Ngai
    • , Abigail Sharp
    • , Cristina Rodrigues
    • , Oliver Pressey
    • , Sean Smith
    • , Nicole Gower
    • , Harjot Dhanda
    • , Christian Ottensmeier
    • , Serena Chee
    • , Benjamin Johnson
    • , Aiman Alzetani
    • , Emily Shaw
    • , Eric Lim
    • , Paulo De Sousa
    • , Simon Jordan
    • , Alexandra Rice
    • , Hilgardt Raubenheimer
    • , Harshil Bhayani
    • , Morag Hamilton
    • , Lyn Ambrose
    • , Anand Devaraj
    • , Hema Chavan
    • , Sofina Begum
    • , Aleksander Mani
    • , Daniel Kaniu
    • , Mpho Malima
    • , Sarah Booth
    • , Andrew G. Nicholson
    • , Nadia Fernandes
    • , Jessica E. Wallen
    • , Pratibha Shah
    • , Kelvin Lau
    • , Michael Sheaff
    • , Peter Schmid
    • , Louise Lim
    • , John Conibear
    • , Veni Ezhil
    • , Vineet Prakash
    • , Sarah Danson
    • , Jonathan Bury
    • , John Edwards
    • , Jennifer Hill
    • , Sue Matthews
    • , Yota Kitsanta
    • , Jagan Rao
    • , Sara Tenconi
    • , Laura Socci
    • , Kim Suvarna
    • , Faith Kibutu
    • , Patricia Fisher
    • , Robin Young
    • , Joann Barker
    • , Michael Shackcloth
    • , John Gosney
    • , Sarah Feeney
    • , Julius Asante-Siaw
    • , Teresa Light
    • , Tracey Horey
    • , Dionysis Papadatos-Pastos
    • , Peter Russell
    • , Kevin G. Blyth
    • , Craig Dick
    • , Andrew Kidd
    • , Alan Kirk
    • , Mo Asif
    • , John Butler
    • , Rocco Bilanca
    • , Nikos Kostoulas
    • , Charles Swanton
    •  & Nicholas McGranahan
  • Publisher Correction |

    • Richard P. Koche
    • , Elias Rodriguez-Fos
    • , Konstantin Helmsauer
    • , Martin Burkert
    • , Ian C. MacArthur
    • , Jesper Maag
    • , Rocio Chamorro
    • , Natalia Munoz-Perez
    • , Montserrat Puiggròs
    • , Heathcliff Dorado Garcia
    • , Yi Bei
    • , Claudia Röefzaad
    • , Victor Bardinet
    • , Annabell Szymansky
    • , Annika Winkler
    • , Theresa Thole
    • , Natalie Timme
    • , Katharina Kasack
    • , Steffen Fuchs
    • , Filippos Klironomos
    • , Nina Thiessen
    • , Eric Blanc
    • , Karin Schmelz
    • , Annette Künkele
    • , Patrick Hundsdörfer
    • , Carolina Rosswog
    • , Jessica Theissen
    • , Dieter Beule
    • , Hedwig Deubzer
    • , Sascha Sauer
    • , Joern Toedling
    • , Matthias Fischer
    • , Falk Hertwig
    • , Roland F. Schwarz
    • , Angelika Eggert
    • , David Torrents
    • , Johannes H. Schulte
    •  & Anton G. Henssen