Browse Articles

  • Author Correction |

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

    Relatedness disequilibrium regression is a new method for estimating heritability that removes environmental bias by taking advantage of variation in relatedness due to random Mendelian segregation.

    • Alexander I. Young
    • , Michael L. Frigge
    • , Daniel F. Gudbjartsson
    • , Gudmar Thorleifsson
    • , Gyda Bjornsdottir
    • , Patrick Sulem
    • , Gisli Masson
    • , Unnur Thorsteinsdottir
    • , Kari Stefansson
    •  & Augustine Kong
  • Analysis |

    SAIGE (Scalable and Accurate Implementation of GEneralized mixed model) is a generalized mixed model association test that can efficiently analyze large data sets while controlling for unbalanced case-control ratios and sample relatedness, as shown by applying SAIGE to the UK Biobank data for > 1,400 binary phenotypes.

    • Wei Zhou
    • , Jonas B. Nielsen
    • , Lars G. Fritsche
    • , Rounak Dey
    • , Maiken E. Gabrielsen
    • , Brooke N. Wolford
    • , Jonathon LeFaive
    • , Peter VandeHaar
    • , Sarah A. Gagliano
    • , Aliya Gifford
    • , Lisa A. Bastarache
    • , Wei-Qi Wei
    • , Joshua C. Denny
    • , Maoxuan Lin
    • , Kristian Hveem
    • , Hyun Min Kang
    • , Goncalo R. Abecasis
    • , Cristen J. Willer
    •  & Seunggeun Lee
  • Article |

    The authors identify copy number signatures from shallow whole-genome sequencing of high-grade serous ovarian cancer (HGSOC) cases. HGSOC comprises a continuum of genomes shaped by multiple mutational processes that result in genomic aberration.

    • Geoff Macintyre
    • , Teodora E. Goranova
    • , Dilrini De Silva
    • , Darren Ennis
    • , Anna M. Piskorz
    • , Matthew Eldridge
    • , Daoud Sie
    • , Liz-Anne Lewsley
    • , Aishah Hanif
    • , Cheryl Wilson
    • , Suzanne Dowson
    • , Rosalind M. Glasspool
    • , Michelle Lockley
    • , Elly Brockbank
    • , Ana Montes
    • , Axel Walther
    • , Sudha Sundar
    • , Richard Edmondson
    • , Geoff D. Hall
    • , Andrew Clamp
    • , Charlie Gourley
    • , Marcia Hall
    • , Christina Fotopoulou
    • , Hani Gabra
    • , James Paul
    • , Anna Supernat
    • , David Millan
    • , Aoisha Hoyle
    • , Gareth Bryson
    • , Craig Nourse
    • , Laura Mincarelli
    • , Luis Navarro Sanchez
    • , Bauke Ylstra
    • , Mercedes Jimenez-Linan
    • , Luiza Moore
    • , Oliver Hofmann
    • , Florian Markowetz
    • , Iain A. McNeish
    •  & James D. Brenton
  • Letter |

    Genome-wide polygenic risk scores derived from GWAS data for five common diseases can identify subgroups of the population with risk approaching or exceeding that of a monogenic mutation.

    • Amit V. Khera
    • , Mark Chaffin
    • , Krishna G. Aragam
    • , Mary E. Haas
    • , Carolina Roselli
    • , Seung Hoan Choi
    • , Pradeep Natarajan
    • , Eric S. Lander
    • , Steven A. Lubitz
    • , Patrick T. Ellinor
    •  & Sekar Kathiresan
  • Publisher Correction |

    • Jingjing Chen
    • , Ilaria Guccini
    • , Diletta Di Mitri
    • , Daniela Brina
    • , Ajinkya Revandkar
    • , Manuela Sarti
    • , Emiliano Pasquini
    • , Abdullah Alajati
    • , Sandra Pinton
    • , Marco Losa
    • , Gianluca Civenni
    • , Carlo V. Catapano
    • , Jacopo Sgrignani
    • , Andrea Cavalli
    • , Rocco D’Antuono
    • , John M. Asara
    • , Andrea Morandi
    • , Paola Chiarugi
    • , Sara Crotti
    • , Marco Agostini
    • , Monica Montopoli
    • , Ionica Masgras
    • , Andrea Rasola
    • , Ramon Garcia-Escudero
    • , Nicolas Delaleu
    • , Andrea Rinaldi
    • , Francesco Bertoni
    • , Johann de Bono
    • , Arkaitz Carracedo
    •  & Andrea Alimonti
  • Author Correction |

    • Kerrin S. Small
    • , Marijana Todorčević
    • , Mete Civelek
    • , Julia S. El-Sayed Moustafa
    • , Xiao Wang
    • , Michelle M. Simon
    • , Juan Fernandez-Tajes
    • , Anubha Mahajan
    • , Momoko Horikoshi
    • , Alison Hugill
    • , Craig A. Glastonbury
    • , Lydia Quaye
    • , Matt J. Neville
    • , Siddharth Sethi
    • , Marianne Yon
    • , Calvin Pan
    • , Nam Che
    • , Ana Vinuela
    • , Pei-Chien Tsai
    • , Abhishek Nag
    • , Alfonso Buil
    • , Gudmar Thorleifsson
    • , Avanthi Raghavan
    • , Qiurong Ding
    • , Andrew P. Morris
    • , Jordana T. Bell
    • , Unnur Thorsteinsdottir
    • , Kari Stefansson
    • , Markku Laakso
    • , Ingrid Dahlman
    • , Peter Arner
    • , Anna L. Gloyn
    • , Kiran Musunuru
    • , Aldons J. Lusis
    • , Roger D. Cox
    • , Fredrik Karpe
    •  & Mark I. McCarthy
  • Article |

    Two BAH-domain-containing proteins (SHL and EBS) form a complex with EMF1, reading and effecting the H3K27me3 mark in Arabidopsis. The BAH-EMF1c complex thus shows PRC1-like functions in higher plants.

    • Zicong Li
    • , Xing Fu
    • , Yizhong Wang
    • , Renyi Liu
    •  & Yuehui He
  • Letter |

    EBS, which prevents premature flowering in Arabidopsis, is shown to bind H3K27me3 and H3K4me3 via different domains. Disruption of either EBS–H3K27me3 or EBS–H3K4me3 interaction induces early floral transition.

    • Zhenlin Yang
    • , Shuiming Qian
    • , Ray N. Scheid
    • , Li Lu
    • , Xiangsong Chen
    • , Rui Liu
    • , Xuan Du
    • , Xinchen Lv
    • , Melissa D. Boersma
    • , Mark Scalf
    • , Lloyd M. Smith
    • , John M. Denu
    • , Jiamu Du
    •  & Xuehua Zhong
  • Article | | open

    The de novo genome assembly of maize line Mo17 and comparative analysis with other sequenced maize lines show extensive gene-order variations. This study provides insights into maize evolution and has implications for improving maize hybrid lines.

    • Silong Sun
    • , Yingsi Zhou
    • , Jian Chen
    • , Junpeng Shi
    • , Haiming Zhao
    • , Hainan Zhao
    • , Weibin Song
    • , Mei Zhang
    • , Yang Cui
    • , Xiaomei Dong
    • , Han Liu
    • , Xuxu Ma
    • , Yinping Jiao
    • , Bo Wang
    • , Xuehong Wei
    • , Joshua C. Stein
    • , Jeff C. Glaubitz
    • , Fei Lu
    • , Guoliang Yu
    • , Chengzhi Liang
    • , Kevin Fengler
    • , Bailin Li
    • , Antoni Rafalski
    • , Patrick S. Schnable
    • , Doreen H. Ware
    • , Edward S. Buckler
    •  & Jinsheng Lai
  • Letter |

    Large-scale association analyses identify 142 independent risk variants for atrial fibrillation. Pathway and functional enrichment analyses suggest that many of the putative risk genes act via cardiac structural remodeling.

    • Jonas B. Nielsen
    • , Rosa B. Thorolfsdottir
    • , Lars G. Fritsche
    • , Wei Zhou
    • , Morten W. Skov
    • , Sarah E. Graham
    • , Todd J. Herron
    • , Shane McCarthy
    • , Ellen M. Schmidt
    • , Gardar Sveinbjornsson
    • , Ida Surakka
    • , Michael R. Mathis
    • , Masatoshi Yamazaki
    • , Ryan D. Crawford
    • , Maiken E. Gabrielsen
    • , Anne Heidi Skogholt
    • , Oddgeir L. Holmen
    • , Maoxuan Lin
    • , Brooke N. Wolford
    • , Rounak Dey
    • , Håvard Dalen
    • , Patrick Sulem
    • , Jonathan H. Chung
    • , Joshua D. Backman
    • , David O. Arnar
    • , Unnur Thorsteinsdottir
    • , Aris Baras
    • , Colm O’Dushlaine
    • , Anders G. Holst
    • , Xiaoquan Wen
    • , Whitney Hornsby
    • , Frederick E. Dewey
    • , Michael Boehnke
    • , Sachin Kheterpal
    • , Bhramar Mukherjee
    • , Seunggeun Lee
    • , Hyun M. Kang
    • , Hilma Holm
    • , Jacob Kitzman
    • , Jordan A. Shavit
    • , José Jalife
    • , Chad M. Brummett
    • , Tanya M. Teslovich
    • , David J. Carey
    • , Daniel F. Gudbjartsson
    • , Kari Stefansson
    • , Gonçalo R. Abecasis
    • , Kristian Hveem
    •  & Cristen J. Willer
  • Article | | open

    Sequencing and de novo assembly of the maize W22 reference genome enable accurate placement of Mutator (Mu) and Dissociation (Ds) transposable element insertions, providing a foundation for maize functional genomics and transposon biology.

    • Nathan M. Springer
    • , Sarah N. Anderson
    • , Carson M. Andorf
    • , Kevin R. Ahern
    • , Fang Bai
    • , Omer Barad
    • , W. Brad Barbazuk
    • , Hank W. Bass
    • , Kobi Baruch
    • , Gil Ben-Zvi
    • , Edward S. Buckler
    • , Robert Bukowski
    • , Michael S. Campbell
    • , Ethalinda K. S. Cannon
    • , Paul Chomet
    • , R. Kelly Dawe
    • , Ruth Davenport
    • , Hugo K. Dooner
    • , Limei He Du
    • , Chunguang Du
    • , Katherine A. Easterling
    • , Christine Gault
    • , Jiahn-Chou Guan
    • , Charles T. Hunter
    • , Georg Jander
    • , Yinping Jiao
    • , Karen E. Koch
    • , Guy Kol
    • , Tobias G. Köllner
    • , Toru Kudo
    • , Qing Li
    • , Fei Lu
    • , Dustin Mayfield-Jones
    • , Wenbin Mei
    • , Donald R. McCarty
    • , Jaclyn M. Noshay
    • , John L. Portwood II
    • , Gil Ronen
    • , A. Mark Settles
    • , Doron Shem-Tov
    • , Jinghua Shi
    • , Ilya Soifer
    • , Joshua C. Stein
    • , Michelle C. Stitzer
    • , Masaharu Suzuki
    • , Daniel L. Vera
    • , Erik Vollbrecht
    • , Julia T. Vrebalov
    • , Doreen Ware
    • , Sharon Wei
    • , Kokulapalan Wimalanathan
    • , Margaret R. Woodhouse
    • , Wenwei Xiong
    •  & Thomas P. Brutnell
  • Article |

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

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

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

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

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

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

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

  • Article |

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

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

    The authors use genome editing and live imaging to visualize physical enhancer–promoter interaction and transcription at the single-cell level in Drosophila embryos. They show that sustained proximity of an enhancer to its target is required for transcription.

    • Hongtao Chen
    • , Michal Levo
    • , Lev Barinov
    • , Miki Fujioka
    • , James B. Jaynes
    •  & Thomas Gregor
  • Article |

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

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