Browse Articles

  • Article |

    Oncogenic MYC expression involves super-enhancer-mediated tethering of MYC alleles to nuclear pores, thus increasing messenger RNA export. This is regulated by AHCTF1 and β-catenin.

    • Barbara A. Scholz
    • , Noriyuki Sumida
    • , Carolina Diettrich Mallet de Lima
    • , Ilyas Chachoua
    • , Mirco Martino
    • , Ilias Tzelepis
    • , Andrej Nikoshkov
    • , Honglei Zhao
    • , Rashid Mehmood
    • , Emmanouil G. Sifakis
    • , Deeksha Bhartiya
    • , Anita Göndör
    •  & Rolf Ohlsson
  • Letter |

    Combining CRISPRi-FlowFISH to perturb enhancers with an activity-by-contact model to predict complex connections allows systematic mapping of enhancer–gene connections in a given cell type, on the basis of chromatin-state measurements.

    • Charles P. Fulco
    • , Joseph Nasser
    • , Thouis R. Jones
    • , Glen Munson
    • , Drew T. Bergman
    • , Vidya Subramanian
    • , Sharon R. Grossman
    • , Rockwell Anyoha
    • , Benjamin R. Doughty
    • , Tejal A. Patwardhan
    • , Tung H. Nguyen
    • , Michael Kane
    • , Elizabeth M. Perez
    • , Neva C. Durand
    • , Caleb A. Lareau
    • , Elena K. Stamenova
    • , Erez Lieberman Aiden
    • , Eric S. Lander
    •  & Jesse M. Engreitz
  • News & Views |

    A new study presents a powerful experimental approach, CRISPRi-FlowFISH, for mapping regulatory interactions, and uses it to characterize thousands of putative enhancer–gene pairs. The results suggest that most current approaches for predicting enhancer–gene interactions perform poorly, but a simple mathematical model combining distance with enhancer activity shows promise.

    • Daniel J. Gaffney
  • Article |

    High levels of histone acetylation at rhabdomyosarcoma SEs, including SOX8, are detrimental to transcription via exclusion of RNA Pol II, but not BRD4, from phase condensates.

    • Berkley E. Gryder
    • , Silvia Pomella
    • , Carly Sayers
    • , Xiaoli S. Wu
    • , Young Song
    • , Anna M. Chiarella
    • , Sukriti Bagchi
    • , Hsien-Chao Chou
    • , Ranu S. Sinniah
    • , Ashley Walton
    • , Xinyu Wen
    • , Rossella Rota
    • , Nathaniel A. Hathaway
    • , Keji Zhao
    • , Jiji Chen
    • , Christopher R. Vakoc
    • , Jack F. Shern
    • , Benjamin Z. Stanton
    •  & Javed Khan
  • Editorial |

    As the year comes to a close and we start to look ahead to 2020, we thought that we would highlight some of our favorite Nature Genetics papers from 2019. This snapshot also captures some of the topics and themes in genetics that we are most excited to see develop in the near future.

  • Article |

    Transcriptome and functional studies in human iPSC-derived neurons suggest that the phenotypic effects of NRXN1 deletions can occur through reduction in wild-type NRXN1α isoform levels and expression of mutant NRXN1α isoforms.

    • Erin Flaherty
    • , Shijia Zhu
    • , Natalie Barretto
    • , Esther Cheng
    • , P. J. Michael Deans
    • , Michael B. Fernando
    • , Nadine Schrode
    • , Nancy Francoeur
    • , Alesia Antoine
    • , Khaled Alganem
    • , Madeline Halpern
    • , Gintaras Deikus
    • , Hardik Shah
    • , Megan Fitzgerald
    • , Ian Ladran
    • , Peter Gochman
    • , Judith Rapoport
    • , Nadejda M. Tsankova
    • , Robert McCullumsmith
    • , Gabriel E. Hoffman
    • , Robert Sebra
    • , Gang Fang
    •  & Kristen J. Brennand
  • Analysis |

    Pan-cancer genomic analyses based on HLA affinity predictions show that apparent neoantigen depletion signals in untreated tumors become negligible after correction for trinucleotide-based mutational signatures.

    • Jimmy Van den Eynden
    • , Alejandro Jiménez-Sánchez
    • , Martin L. Miller
    •  & Erik Larsson
  • Comment |

    Ancestral and geographical issues underlie the need to develop Africa-specific guidelines for the return of genomics research results in Africa. In this Commentary, we outline the challenges that will inform policies and practices in the future.

    • Ambroise Wonkam
    •  & Jantina de Vries
  • Article |

    A single-cell transcriptomic atlas from embryonal pons and forebrain provides insights into the developmental origins of pediatric brain tumors. The study identifies impaired differentiation of specific neural progenitors as a common mechanism underlying these cancers.

    • Selin Jessa
    • , Alexis Blanchet-Cohen
    • , Brian Krug
    • , Maria Vladoiu
    • , Marie Coutelier
    • , Damien Faury
    • , Brice Poreau
    • , Nicolas De Jay
    • , Steven Hébert
    • , Jean Monlong
    • , W. Todd Farmer
    • , Laura K. Donovan
    • , Yixing Hu
    • , Melissa K. McConechy
    • , Florence M. G. Cavalli
    • , Leonie G. Mikael
    • , Benjamin Ellezam
    • , Maxime Richer
    • , Andréa Allaire
    • , Alexander G. Weil
    • , Jeffrey Atkinson
    • , Jean-Pierre Farmer
    • , Roy W. R. Dudley
    • , Valerie Larouche
    • , Louis Crevier
    • , Steffen Albrecht
    • , Mariella G. Filbin
    • , Hervé Sartelet
    • , Pierre-Eric Lutz
    • , Corina Nagy
    • , Gustavo Turecki
    • , Santiago Costantino
    • , Peter B. Dirks
    • , Keith K. Murai
    • , Guillaume Bourque
    • , Jiannis Ragoussis
    • , Livia Garzia
    • , Michael D. Taylor
    • , Nada Jabado
    •  & Claudia L. Kleinman
  • Article |

    Analysis of whole-genome sequences from more than 3,500 metastatic tumors identifies mutational signatures associated with different chemotherapies and provides estimates of the relative contribution of different treatments to tumor mutational burden.

    • Oriol Pich
    • , Ferran Muiños
    • , Martijn Paul Lolkema
    • , Neeltje Steeghs
    • , Abel Gonzalez-Perez
    •  & Nuria Lopez-Bigas
  • Article |

    Genome-wide meta-analysis with individuals of East Asian or European ancestry identifies 176 loci associated with schizophrenia. Despite consistent genetic effects across populations, polygenic risk models trained in one population have reduced performance in the other population.

    • Max Lam
    • , Chia-Yen Chen
    • , Zhiqiang Li
    • , Alicia R. Martin
    • , Julien Bryois
    • , Xixian Ma
    • , Helena Gaspar
    • , Masashi Ikeda
    • , Beben Benyamin
    • , Brielin C. Brown
    • , Ruize Liu
    • , Wei Zhou
    • , Lili Guan
    • , Yoichiro Kamatani
    • , Sung-Wan Kim
    • , Michiaki Kubo
    • , Agung A. A. A. Kusumawardhani
    • , Chih-Min Liu
    • , Hong Ma
    • , Sathish Periyasamy
    • , Atsushi Takahashi
    • , Zhida Xu
    • , Hao Yu
    • , Feng Zhu
    • , Wei J. Chen
    • , Stephen Faraone
    • , Stephen J. Glatt
    • , Lin He
    • , Steven E. Hyman
    • , Hai-Gwo Hwu
    • , Steven A. McCarroll
    • , Benjamin M. Neale
    • , Pamela Sklar
    • , Dieter B. Wildenauer
    • , Xin Yu
    • , Dai Zhang
    • , Bryan J. Mowry
    • , Jimmy Lee
    • , Peter Holmans
    • , Shuhua Xu
    • , Patrick F. Sullivan
    • , Stephan Ripke
    • , Michael C. O’Donovan
    • , Mark J. Daly
    • , Shengying Qin
    • , Pak Sham
    • , Nakao Iwata
    • , Kyung S. Hong
    • , Sibylle G. Schwab
    • , Weihua Yue
    • , Ming Tsuang
    • , Jianjun Liu
    • , Xiancang Ma
    • , René S. Kahn
    • , Yongyong Shi
    •  & Hailiang Huang
  • Article |

    Short- and long-term cultures of human stem-cell-derived neurons reveal that a pattern of restricted selection of clustered protocadherin isoforms, pre-established in pluripotent cells, distinguishes immature from mature neurons.

    • Angels Almenar-Queralt
    • , Daria Merkurjev
    • , Hong Sook Kim
    • , Michael Navarro
    • , Qi Ma
    • , Rodrigo S. Chaves
    • , Catarina Allegue
    • , Shawn P. Driscoll
    • , Andrew G. Chen
    • , Bridget Kohlnhofer
    • , Lauren K. Fong
    • , Grace Woodruff
    • , Carlos Mackintosh
    • , Dasa Bohaciakova
    • , Marian Hruska-Plochan
    • , Takahiro Tadokoro
    • , Jessica E. Young
    • , Nady El Hajj
    • , Marcus Dittrich
    • , Martin Marsala
    • , Lawrence S. B. Goldstein
    •  & Ivan Garcia-Bassets
  • Article
    | Open Access

    An improved watermelon reference genome and whole-genome resequencing of 414 cultivated and wild accessions provide insights into fruit quality traits and dessert watermelon evolution.

    • Shaogui Guo
    • , Shengjie Zhao
    • , Honghe Sun
    • , Xin Wang
    • , Shan Wu
    • , Tao Lin
    • , Yi Ren
    • , Lei Gao
    • , Yun Deng
    • , Jie Zhang
    • , Xuqiang Lu
    • , Haiying Zhang
    • , Jianli Shang
    • , Guoyi Gong
    • , Changlong Wen
    • , Nan He
    • , Shouwei Tian
    • , Maoying Li
    • , Junpu Liu
    • , Yanping Wang
    • , Yingchun Zhu
    • , Robert Jarret
    • , Amnon Levi
    • , Xingping Zhang
    • , Sanwen Huang
    • , Zhangjun Fei
    • , Wenge Liu
    •  & Yong Xu
  • Article |

    The rare loss-of-function allele p.Arg138* in SLC30A8 (encoding ZnT8) mediates protection against type 2 diabetes (T2D) through promoting better insulin secretion and enhanced glucose responsiveness, suggesting ZnT8 as a target for T2D treatment.

    • Om Prakash Dwivedi
    • , Mikko Lehtovirta
    • , Benoit Hastoy
    • , Vikash Chandra
    • , Nicole A. J. Krentz
    • , Sandra Kleiner
    • , Deepak Jain
    • , Ann-Marie Richard
    • , Fernando Abaitua
    • , Nicola L. Beer
    • , Antje Grotz
    • , Rashmi B. Prasad
    • , Ola Hansson
    • , Emma Ahlqvist
    • , Ulrika Krus
    • , Isabella Artner
    • , Anu Suoranta
    • , Daniel Gomez
    • , Aris Baras
    • , Benoite Champon
    • , Anthony J. Payne
    • , Daniela Moralli
    • , Soren K. Thomsen
    • , Philipp Kramer
    • , Ioannis Spiliotis
    • , Reshma Ramracheya
    • , Pauline Chabosseau
    • , Andria Theodoulou
    • , Rebecca Cheung
    • , Martijn van de Bunt
    • , Jason Flannick
    • , Maddalena Trombetta
    • , Enzo Bonora
    • , Claes B. Wolheim
    • , Leena Sarelin
    • , Riccardo C. Bonadonna
    • , Patrik Rorsman
    • , Benjamin Davies
    • , Julia Brosnan
    • , Mark I. McCarthy
    • , Timo Otonkoski
    • , Jens O. Lagerstedt
    • , Guy A. Rutter
    • , Jesper Gromada
    • , Anna L. Gloyn
    • , Tiinamaija Tuomi
    •  & Leif Groop
  • Comment |

    A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp ( https://panelapp.genomicsengland.co.uk ), a publicly available knowledge base of curated virtual gene panels.

    • Antonio Rueda Martin
    • , Eleanor Williams
    • , Rebecca E. Foulger
    • , Sarah Leigh
    • , Louise C. Daugherty
    • , Olivia Niblock
    • , Ivone U. S. Leong
    • , Katherine R. Smith
    • , Oleg Gerasimenko
    • , Eik Haraldsdottir
    • , Ellen Thomas
    • , Richard H. Scott
    • , Emma Baple
    • , Arianna Tucci
    • , Helen Brittain
    • , Anna de Burca
    • , Kristina Ibañez
    • , Dalia Kasperaviciute
    • , Damian Smedley
    • , Mark Caulfield
    • , Augusto Rendon
    •  & Ellen M. McDonagh
  • Analysis |

    Genome-wide analyses in 19,629 individuals identify 365 independent variants associated with brain volumetric phenotypes. The study provides insight into the overlapping genetic architecture of brain volume measures and cognitive and mental health traits.

    • Bingxin Zhao
    • , Tianyou Luo
    • , Tengfei Li
    • , Yun Li
    • , Jingwen Zhang
    • , Yue Shan
    • , Xifeng Wang
    • , Liuqing Yang
    • , Fan Zhou
    • , Ziliang Zhu
    •  & Hongtu Zhu
  • Letter |

    Genome-wide analysis of venous thromboembolism identifies 22 new risk loci and facilitates construction of a polygenic risk score. Comparison to arterial vascular disease highlights shared pathophysiology and potential therapeutic strategies.

    • Derek Klarin
    • , Emma Busenkell
    • , Renae Judy
    • , Julie Lynch
    • , Michael Levin
    • , Jeffery Haessler
    • , Krishna Aragam
    • , Mark Chaffin
    • , Mary Haas
    • , Sara Lindström
    • , Themistocles L. Assimes
    • , Jie Huang
    • , Kyung Min Lee
    • , Qing Shao
    • , Jennifer E. Huffman
    • , Christopher Kabrhel
    • , Yunfeng Huang
    • , Yan V. Sun
    • , Marijana Vujkovic
    • , Danish Saleheen
    • , Donald R. Miller
    • , Peter Reaven
    • , Scott DuVall
    • , William E. Boden
    • , Saiju Pyarajan
    • , Alex P. Reiner
    • , David-Alexandre Trégouët
    • , Peter Henke
    • , Charles Kooperberg
    • , J. Michael Gaziano
    • , John Concato
    • , Daniel J. Rader
    • , Kelly Cho
    • , Kyong-Mi Chang
    • , Peter W. F. Wilson
    • , Nicholas L. Smith
    • , Christopher J. O’Donnell
    • , Philip S. Tsao
    • , Sekar Kathiresan
    • , Andrea Obi
    • , Scott M. Damrauer
    •  & Pradeep Natarajan
  • Editorial |

    Popular crop plants have been bred and selected for desirable taste and color traits. Genomic approaches are increasingly being used to provide insights into the origins, evolution and biology of our favorite foods. Large-scale sequencing efforts have brought agriculture genomics into the big-data era, leading to sweet rewards.

  • Analysis |

    Analysis of whole-genome sequencing and expression data for 17 tissues identifies short tandem repeats whose repeat number is associated with gene expression (eSTRs). Specific eSTRs are implicated in different complex traits through colocalization analysis with known genome-wide association study signals.

    • Stephanie Feupe Fotsing
    • , Jonathan Margoliash
    • , Catherine Wang
    • , Shubham Saini
    • , Richard Yanicky
    • , Sharona Shleizer-Burko
    • , Alon Goren
    •  & Melissa Gymrek
  • News & Views |

    Two genetic studies uncover how domestication changed fruit quality traits in melon and watermelon. The studies combine population genomic and quantitative genetic tools to study crop evolution and provide breeders with comprehensive variation maps.

    • Murukarthick Jayakodi
    • , Mona Schreiber
    •  & Martin Mascher
  • Article |

    Cytokine-induced regulatory changes in human pancreatic islets illustrate the β-cell chromatin dynamics in response to a proinflammatory environment and implicate a role for islet enhancers in type 1 diabetes.

    • Mireia Ramos-Rodríguez
    • , Helena Raurell-Vila
    • , Maikel L. Colli
    • , Maria Inês Alvelos
    • , Marc Subirana-Granés
    • , Jonàs Juan-Mateu
    • , Richard Norris
    • , Jean-Valery Turatsinze
    • , Ernesto S. Nakayasu
    • , Bobbie-Jo M. Webb-Robertson
    • , Jamie R. J. Inshaw
    • , Piero Marchetti
    • , Lorenzo Piemonti
    • , Manel Esteller
    • , John A. Todd
    • , Thomas O. Metz
    • , Décio L. Eizirik
    •  & Lorenzo Pasquali
  • Article |

    A comprehensive map of genomic variation in melon derived from resequencing of 1,175 accessions sheds light on the population structure and domestication history of melon and agronomic traits for melon breeding.

    • Guangwei Zhao
    • , Qun Lian
    • , Zhonghua Zhang
    • , Qiushi Fu
    • , Yuhua He
    • , Shuangwu Ma
    • , Valentino Ruggieri
    • , Antonio J. Monforte
    • , Pingyong Wang
    • , Irene Julca
    • , Huaisong Wang
    • , Junpu Liu
    • , Yong Xu
    • , Runze Wang
    • , Jiabing Ji
    • , Zhihong Xu
    • , Weihu Kong
    • , Yang Zhong
    • , Jianli Shang
    • , Lara Pereira
    • , Jason Argyris
    • , Jian Zhang
    • , Carlos Mayobre
    • , Marta Pujol
    • , Elad Oren
    • , Diandian Ou
    • , Jiming Wang
    • , Dexi Sun
    • , Shengjie Zhao
    • , Yingchun Zhu
    • , Na Li
    • , Nurit Katzir
    • , Amit Gur
    • , Catherine Dogimont
    • , Hanno Schaefer
    • , Wei Fan
    • , Abdelhafid Bendahmane
    • , Zhangjun Fei
    • , Michel Pitrat
    • , Toni Gabaldón
    • , Tao Lin
    • , Jordi Garcia-Mas
    • , Yongyang Xu
    •  & Sanwen Huang
  • Letter |

    Genome-wide analyses identify variants near HDAC9 associated with abdominal aortic calcification and other cardiovascular phenotypes. Functional work shows that HDAC9 promotes an osteogenic vascular smooth muscle cell phenotype, enhancing calcification and reducing contractility.

    • Rajeev Malhotra
    • , Andreas C. Mauer
    • , Christian L. Lino Cardenas
    • , Xiuqing Guo
    • , Jie Yao
    • , Xiaoling Zhang
    • , Florian Wunderer
    • , Albert V. Smith
    • , Quenna Wong
    • , Sonali Pechlivanis
    • , Shih-Jen Hwang
    • , Judy Wang
    • , Lingyi Lu
    • , Christopher J. Nicholson
    • , Georgia Shelton
    • , Mary D. Buswell
    • , Hanna J. Barnes
    • , Haakon H. Sigurslid
    • , Charles Slocum
    • , Caitlin O’ Rourke
    • , David K. Rhee
    • , Aranya Bagchi
    • , Sagar U. Nigwekar
    • , Emmanuel S. Buys
    • , Catherine Y. Campbell
    • , Tamara Harris
    • , Matthew Budoff
    • , Michael H. Criqui
    • , Jerome I. Rotter
    • , Andrew D. Johnson
    • , Ci Song
    • , Nora Franceschini
    • , Stephanie Debette
    • , Udo Hoffmann
    • , Hagen Kälsch
    • , Markus M. Nöthen
    • , Sigurdur Sigurdsson
    • , Barry I. Freedman
    • , Donald W. Bowden
    • , Karl-Heinz Jöckel
    • , Susanne Moebus
    • , Raimund Erbel
    • , Mary F. Feitosa
    • , Vilmundur Gudnason
    • , George Thanassoulis
    • , Warren M. Zapol
    • , Mark E. Lindsay
    • , Donald B. Bloch
    • , Wendy S. Post
    •  & Christopher J. O’Donnell
  • Comment |

    A generic framework for providing participant information and implementing a tiered consent process for health genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African genomic data while simultaneously respecting and upholding the autonomy and individual choices of African research participants.

    • Victoria Nembaware
    • , Katherine Johnston
    • , Alpha A. Diallo
    • , Maritha J. Kotze
    • , Alice Matimba
    • , Keymanthri Moodley
    • , Godfrey B. Tangwa
    • , Rispah Torrorey-Sawe
    •  & Nicki Tiffin
  • Article |

    Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

    • Claudia L. Satizabal
    • , Hieab H. H. Adams
    • , Derrek P. Hibar
    • , Charles C. White
    • , Maria J. Knol
    • , Jason L. Stein
    • , Markus Scholz
    • , Muralidharan Sargurupremraj
    • , Neda Jahanshad
    • , Gennady V. Roshchupkin
    • , Albert V. Smith
    • , Joshua C. Bis
    • , Xueqiu Jian
    • , Michelle Luciano
    • , Edith Hofer
    • , Alexander Teumer
    • , Sven J. van der Lee
    • , Jingyun Yang
    • , Lisa R. Yanek
    • , Tom V. Lee
    • , Shuo Li
    • , Yanhui Hu
    • , Jia Yu Koh
    • , John D. Eicher
    • , Sylvane Desrivières
    • , Alejandro Arias-Vasquez
    • , Ganesh Chauhan
    • , Lavinia Athanasiu
    • , Miguel E. Rentería
    • , Sungeun Kim
    • , David Hoehn
    • , Nicola J. Armstrong
    • , Qiang Chen
    • , Avram J. Holmes
    • , Anouk den Braber
    • , Iwona Kloszewska
    • , Micael Andersson
    • , Thomas Espeseth
    • , Oliver Grimm
    • , Lucija Abramovic
    • , Saud Alhusaini
    • , Yuri Milaneschi
    • , Martina Papmeyer
    • , Tomas Axelsson
    • , Stefan Ehrlich
    • , Roberto Roiz-Santiañez
    • , Bernd Kraemer
    • , Asta K. Håberg
    • , Hannah J. Jones
    • , G. Bruce Pike
    • , Dan J. Stein
    • , Allison Stevens
    • , Janita Bralten
    • , Meike W. Vernooij
    • , Tamara B. Harris
    • , Irina Filippi
    • , A. Veronica Witte
    • , Tulio Guadalupe
    • , Katharina Wittfeld
    • , Thomas H. Mosley
    • , James T. Becker
    • , Nhat Trung Doan
    • , Saskia P. Hagenaars
    • , Yasaman Saba
    • , Gabriel Cuellar-Partida
    • , Najaf Amin
    • , Saima Hilal
    • , Kwangsik Nho
    • , Nazanin Mirza-Schreiber
    • , Konstantinos Arfanakis
    • , Diane M. Becker
    • , David Ames
    • , Aaron L. Goldman
    • , Phil H. Lee
    • , Dorret I. Boomsma
    • , Simon Lovestone
    • , Sudheer Giddaluru
    • , Stephanie Le Hellard
    • , Manuel Mattheisen
    • , Marc M. Bohlken
    • , Dalia Kasperaviciute
    • , Lianne Schmaal
    • , Stephen M. Lawrie
    • , Ingrid Agartz
    • , Esther Walton
    • , Diana Tordesillas-Gutierrez
    • , Gareth E. Davies
    • , Jean Shin
    • , Jonathan C. Ipser
    • , Louis N. Vinke
    • , Martine Hoogman
    • , Tianye Jia
    • , Ralph Burkhardt
    • , Marieke Klein
    • , Fabrice Crivello
    • , Deborah Janowitz
    • , Owen Carmichael
    • , Unn K. Haukvik
    • , Benjamin S. Aribisala
    • , Helena Schmidt
    • , Lachlan T. Strike
    • , Ching-Yu Cheng
    • , Shannon L. Risacher
    • , Benno Pütz
    • , Debra A. Fleischman
    • , Amelia A. Assareh
    • , Venkata S. Mattay
    • , Randy L. Buckner
    • , Patrizia Mecocci
    • , Anders M. Dale
    • , Sven Cichon
    • , Marco P. Boks
    • , Mar Matarin
    • , Brenda W. J. H. Penninx
    • , Vince D. Calhoun
    • , M. Mallar Chakravarty
    • , Andre F. Marquand
    • , Christine Macare
    • , Shahrzad Kharabian Masouleh
    • , Jaap Oosterlaan
    • , Philippe Amouyel
    • , Katrin Hegenscheid
    • , Jerome I. Rotter
    • , Andrew J. Schork
    • , David C. M. Liewald
    • , Greig I. de Zubicaray
    • , Tien Yin Wong
    • , Li Shen
    • , Philipp G. Sämann
    • , Henry Brodaty
    • , Joshua L. Roffman
    • , Eco J. C. de Geus
    • , Magda Tsolaki
    • , Susanne Erk
    • , Kristel R. van Eijk
    • , Gianpiero L. Cavalleri
    • , Nic J. A. van der Wee
    • , Andrew M. McIntosh
    • , Randy L. Gollub
    • , Kazima B. Bulayeva
    • , Manon Bernard
    • , Jennifer S. Richards
    • , Jayandra J. Himali
    • , Markus Loeffler
    • , Nanda Rommelse
    • , Wolfgang Hoffmann
    • , Lars T. Westlye
    • , Maria C. Valdés Hernández
    • , Narelle K. Hansell
    • , Theo G. M. van Erp
    • , Christiane Wolf
    • , John B. J. Kwok
    • , Bruno Vellas
    • , Andreas Heinz
    • , Loes M. Olde Loohuis
    • , Norman Delanty
    • , Beng-Choon Ho
    • , Christopher R. K. Ching
    • , Elena Shumskaya
    • , Baljeet Singh
    • , Albert Hofman
    • , Dennis van der Meer
    • , Georg Homuth
    • , Bruce M. Psaty
    • , Mark E. Bastin
    • , Grant W. Montgomery
    • , Tatiana M. Foroud
    • , Simone Reppermund
    • , Jouke-Jan Hottenga
    • , Andrew Simmons
    • , Andreas Meyer-Lindenberg
    • , Wiepke Cahn
    • , Christopher D. Whelan
    • , Marjolein M. J. van Donkelaar
    • , Qiong Yang
    • , Norbert Hosten
    • , Robert C Green
    • , Anbupalam Thalamuthu
    • , Sebastian Mohnke
    • , Hilleke E. Hulshoff Pol
    • , Honghuang Lin
    • , Clifford R. Jack Jr
    • , Peter R. Schofield
    • , Thomas W. Mühleisen
    • , Pauline Maillard
    • , Steven G. Potkin
    • , Wei Wen
    • , Evan Fletcher
    • , Arthur W. Toga
    • , Oliver Gruber
    • , Matthew Huentelman
    • , George Davey Smith
    • , Lenore J. Launer
    • , Lars Nyberg
    • , Erik G. Jönsson
    • , Benedicto Crespo-Facorro
    • , Nastassja Koen
    • , Douglas N. Greve
    • , André G. Uitterlinden
    • , Daniel R. Weinberger
    • , Vidar M. Steen
    • , Iryna O. Fedko
    • , Nynke A. Groenewold
    • , Wiro J. Niessen
    • , Roberto Toro
    • , Christophe Tzourio
    • , William T. Longstreth Jr
    • , M. Kamran Ikram
    • , Jordan W. Smoller
    • , Marie-Jose van Tol
    • , Jessika E. Sussmann
    • , Tomas Paus
    • , Hervé Lemaître
    • , Matthias L. Schroeter
    • , Bernard Mazoyer
    • , Ole A. Andreassen
    • , Florian Holsboer
    • , Chantal Depondt
    • , Dick J. Veltman
    • , Jessica A. Turner
    • , Zdenka Pausova
    • , Gunter Schumann
    • , Daan van Rooij
    • , Srdjan Djurovic
    • , Ian J. Deary
    • , Katie L. McMahon
    • , Bertram Müller-Myhsok
    • , Rachel M. Brouwer
    • , Hilkka Soininen
    • , Massimo Pandolfo
    • , Thomas H. Wassink
    • , Joshua W. Cheung
    • , Thomas Wolfers
    • , Jean-Luc Martinot
    • , Marcel P. Zwiers
    • , Matthias Nauck
    • , Ingrid Melle
    • , Nicholas G. Martin
    • , Ryota Kanai
    • , Eric Westman
    • , René S. Kahn
    • , Sanjay M. Sisodiya
    • , Tonya White
    • , Arvin Saremi
    • , Hans van Bokhoven
    • , Han G. Brunner
    • , Henry Völzke
    • , Margaret J. Wright
    • , Dennis van ‘t Ent
    • , Markus M. Nöthen
    • , Roel A. Ophoff
    • , Jan K. Buitelaar
    • , Guillén Fernández
    • , Perminder S. Sachdev
    • , Marcella Rietschel
    • , Neeltje E. M. van Haren
    • , Simon E. Fisher
    • , Alexa S. Beiser
    • , Clyde Francks
    • , Andrew J. Saykin
    • , Karen A. Mather
    • , Nina Romanczuk-Seiferth
    • , Catharina A. Hartman
    • , Anita L. DeStefano
    • , Dirk J. Heslenfeld
    • , Michael W. Weiner
    • , Henrik Walter
    • , Pieter J. Hoekstra
    • , Paul A. Nyquist
    • , Barbara Franke
    • , David A. Bennett
    • , Hans J. Grabe
    • , Andrew D. Johnson
    • , Christopher Chen
    • , Cornelia M. van Duijn
    • , Oscar L. Lopez
    • , Myriam Fornage
    • , Joanna M. Wardlaw
    • , Reinhold Schmidt
    • , Charles DeCarli
    • , Philip L. De Jager
    • , Arno Villringer
    • , Stéphanie Debette
    • , Vilmundur Gudnason
    • , Sarah E. Medland
    • , Joshua M. Shulman
    • , Paul M. Thompson
    • , Sudha Seshadri
    •  & M. Arfan Ikram
  • Author Correction |

    • Pierre Vabres
    • , Arthur Sorlin
    • , Stanislav S. Kholmanskikh
    • , Bénédicte Demeer
    • , Judith St-Onge
    • , Yannis Duffourd
    • , Paul Kuentz
    • , Jean-Benoît Courcet
    • , Virginie Carmignac
    • , Philippine Garret
    • , Didier Bessis
    • , Odile Boute
    • , Alain Bron
    • , Guillaume Captier
    • , Esther Carmi
    • , Bernard Devauchelle
    • , David Geneviève
    • , Catherine Gondry-Jouet
    • , Laurent Guibaud
    • , Arnaud Lafon
    • , Michèle Mathieu-Dramard
    • , Julien Thevenon
    • , William B. Dobyns
    • , Geneviève Bernard
    • , Satyamaanasa Polubothu
    • , Francesca Faravelli
    • , Veronica A. Kinsler
    • , Christel Thauvin
    • , Laurence Faivre
    • , M. Elizabeth Ross
    •  & Jean-Baptiste Rivière
  • Article |

    A trans-ancestry genome-wide association study of serum urate levels identifies 183 loci influencing this trait. Enrichment analyses, fine-mapping and colocalization with gene expression in 47 tissues implicate the kidney and liver as key target organs and prioritize potential causal genes.

    • Adrienne Tin
    • , Jonathan Marten
    • , Victoria L. Halperin Kuhns
    • , Yong Li
    • , Matthias Wuttke
    • , Holger Kirsten
    • , Karsten B. Sieber
    • , Chengxiang Qiu
    • , Mathias Gorski
    • , Zhi Yu
    • , Ayush Giri
    • , Gardar Sveinbjornsson
    • , Man Li
    • , Audrey Y. Chu
    • , Anselm Hoppmann
    • , Luke J. O’Connor
    • , Bram Prins
    • , Teresa Nutile
    • , Damia Noce
    • , Masato Akiyama
    • , Massimiliano Cocca
    • , Sahar Ghasemi
    • , Peter J. van der Most
    • , Katrin Horn
    • , Yizhe Xu
    • , Christian Fuchsberger
    • , Sanaz Sedaghat
    • , Saima Afaq
    • , Najaf Amin
    • , Johan Ärnlöv
    • , Stephan J. L. Bakker
    • , Nisha Bansal
    • , Daniela Baptista
    • , Sven Bergmann
    • , Mary L. Biggs
    • , Ginevra Biino
    • , Eric Boerwinkle
    • , Erwin P. Bottinger
    • , Thibaud S. Boutin
    • , Marco Brumat
    • , Ralph Burkhardt
    • , Eric Campana
    • , Archie Campbell
    • , Harry Campbell
    • , Robert J. Carroll
    • , Eulalia Catamo
    • , John C. Chambers
    • , Marina Ciullo
    • , Maria Pina Concas
    • , Josef Coresh
    • , Tanguy Corre
    • , Daniele Cusi
    • , Sala Cinzia Felicita
    • , Martin H. de Borst
    • , Alessandro De Grandi
    • , Renée de Mutsert
    • , Aiko P. J. de Vries
    • , Graciela Delgado
    • , Ayşe Demirkan
    • , Olivier Devuyst
    • , Katalin Dittrich
    • , Kai-Uwe Eckardt
    • , Georg Ehret
    • , Karlhans Endlich
    • , Michele K. Evans
    • , Ron T. Gansevoort
    • , Paolo Gasparini
    • , Vilmantas Giedraitis
    • , Christian Gieger
    • , Giorgia Girotto
    • , Martin Gögele
    • , Scott D. Gordon
    • , Daniel F. Gudbjartsson
    • , Vilmundur Gudnason
    • , Toomas Haller
    • , Pavel Hamet
    • , Tamara B. Harris
    • , Caroline Hayward
    • , Andrew A. Hicks
    • , Edith Hofer
    • , Hilma Holm
    • , Wei Huang
    • , Nina Hutri-Kähönen
    • , Shih-Jen Hwang
    • , M. Arfan Ikram
    • , Raychel M. Lewis
    • , Erik Ingelsson
    • , Johanna Jakobsdottir
    • , Ingileif Jonsdottir
    • , Helgi Jonsson
    • , Peter K. Joshi
    • , Navya Shilpa Josyula
    • , Bettina Jung
    • , Mika Kähönen
    • , Yoichiro Kamatani
    • , Masahiro Kanai
    • , Shona M. Kerr
    • , Wieland Kiess
    • , Marcus E. Kleber
    • , Wolfgang Koenig
    • , Jaspal S. Kooner
    • , Antje Körner
    • , Peter Kovacs
    • , Bernhard K. Krämer
    • , Florian Kronenberg
    • , Michiaki Kubo
    • , Brigitte Kühnel
    • , Martina La Bianca
    • , Leslie A. Lange
    • , Benjamin Lehne
    • , Terho Lehtimäki
    • , Jun Liu
    • , Markus Loeffler
    • , Ruth J. F. Loos
    • , Leo-Pekka Lyytikäinen
    • , Reedik Magi
    • , Anubha Mahajan
    • , Nicholas G. Martin
    • , Winfried März
    • , Deborah Mascalzoni
    • , Koichi Matsuda
    • , Christa Meisinger
    • , Thomas Meitinger
    • , Andres Metspalu
    • , Yuri Milaneschi
    • , Christopher J. O’Donnell
    • , Otis D. Wilson
    • , J. Michael Gaziano
    • , Pashupati P. Mishra
    • , Karen L. Mohlke
    • , Nina Mononen
    • , Grant W. Montgomery
    • , Dennis O. Mook-Kanamori
    • , Martina Müller-Nurasyid
    • , Girish N. Nadkarni
    • , Mike A. Nalls
    • , Matthias Nauck
    • , Kjell Nikus
    • , Boting Ning
    • , Ilja M. Nolte
    • , Raymond Noordam
    • , Jeffrey R. O’Connell
    • , Isleifur Olafsson
    • , Sandosh Padmanabhan
    • , Brenda W. J. H. Penninx
    • , Thomas Perls
    • , Annette Peters
    • , Mario Pirastu
    • , Nicola Pirastu
    • , Giorgio Pistis
    • , Ozren Polasek
    • , Belen Ponte
    • , David J. Porteous
    • , Tanja Poulain
    • , Michael H. Preuss
    • , Ton J. Rabelink
    • , Laura M. Raffield
    • , Olli T. Raitakari
    • , Rainer Rettig
    • , Myriam Rheinberger
    • , Kenneth M. Rice
    • , Federica Rizzi
    • , Antonietta Robino
    • , Igor Rudan
    • , Alena Krajcoviechova
    • , Renata Cifkova
    • , Rico Rueedi
    • , Daniela Ruggiero
    • , Kathleen A. Ryan
    • , Yasaman Saba
    • , Erika Salvi
    • , Helena Schmidt
    • , Reinhold Schmidt
    • , Christian M. Shaffer
    • , Albert V. Smith
    • , Blair H. Smith
    • , Cassandra N. Spracklen
    • , Konstantin Strauch
    • , Michael Stumvoll
    • , Patrick Sulem
    • , Salman M. Tajuddin
    • , Andrej Teren
    • , Joachim Thiery
    • , Chris H. L. Thio
    • , Unnur Thorsteinsdottir
    • , Daniela Toniolo
    • , Anke Tönjes
    • , Johanne Tremblay
    • , André G. Uitterlinden
    • , Simona Vaccargiu
    • , Pim van der Harst
    • , Cornelia M. van Duijn
    • , Niek Verweij
    • , Uwe Völker
    • , Peter Vollenweider
    • , Gerard Waeber
    • , Melanie Waldenberger
    • , John B. Whitfield
    • , Sarah H. Wild
    • , James F. Wilson
    • , Qiong Yang
    • , Weihua Zhang
    • , Alan B. Zonderman
    • , Murielle Bochud
    • , James G. Wilson
    • , Sarah A. Pendergrass
    • , Kevin Ho
    • , Afshin Parsa
    • , Peter P. Pramstaller
    • , Bruce M. Psaty
    • , Carsten A. Böger
    • , Harold Snieder
    • , Adam S. Butterworth
    • , Yukinori Okada
    • , Todd L. Edwards
    • , Kari Stefansson
    • , Katalin Susztak
    • , Markus Scholz
    • , Iris M. Heid
    • , Adriana M. Hung
    • , Alexander Teumer
    • , Cristian Pattaro
    • , Owen M. Woodward
    • , Veronique Vitart
    •  & Anna Köttgen
  • Brief Communication |

    Postzygotic inactivating mutations in RHOA cause a mosaic neuroectodermal syndrome characterized by linear hypopigmentation, leukoencephalopathy and craniofacial anomalies, highlighting the role of RHOA in human development and disease.

    • Pierre Vabres
    • , Arthur Sorlin
    • , Stanislav S. Kholmanskikh
    • , Bénédicte Demeer
    • , Judith St-Onge
    • , Yannis Duffourd
    • , Paul Kuentz
    • , Jean-Benoît Courcet
    • , Virginie Carmignac
    • , Philippine Garret
    • , Didier Bessis
    • , Odile Boute
    • , Alain Bron
    • , Guillaume Captier
    • , Esther Carmi
    • , Bernard Devauchelle
    • , David Geneviève
    • , Catherine Gondry-Jouet
    • , Laurent Guibaud
    • , Arnaud Lafon
    • , Michèle Mathieu-Dramard
    • , Julien Thevenon
    • , William B. Dobyns
    • , Geneviève Bernard
    • , Satyamaanasa Polubothu
    • , Francesca Faravelli
    • , Veronica A. Kinsler
    • , Christel Thauvin
    • , Laurence Faivre
    • , M. Elizabeth Ross
    •  & Jean-Baptiste Rivière
  • Article
    | Open Access

    Analysis of the bracteatus pineapple genome provides insight into fiber production, color formation, sugar accumulation and fruit maturation. Resequencing of 89 Ananas genomes supports the coexistence of sexual recombination and a ‘one-step operation’ during domestication.

    • Li-Yu Chen
    • , Robert VanBuren
    • , Margot Paris
    • , Hongye Zhou
    • , Xingtan Zhang
    • , Ching Man Wai
    • , Hansong Yan
    • , Shuai Chen
    • , Michael Alonge
    • , Srividya Ramakrishnan
    • , Zhenyang Liao
    • , Juan Liu
    • , Jishan Lin
    • , Jingjing Yue
    • , Mahpara Fatima
    • , Zhicong Lin
    • , Jisen Zhang
    • , Lixian Huang
    • , Hao Wang
    • , Teh-Yang Hwa
    • , Shu-Min Kao
    • , Jae Young Choi
    • , Anupma Sharma
    • , Jian Song
    • , Lulu Wang
    • , Won C. Yim
    • , John C. Cushman
    • , Robert E. Paull
    • , Tracie Matsumoto
    • , Yuan Qin
    • , Qingsong Wu
    • , Jianping Wang
    • , Qingyi Yu
    • , Jun Wu
    • , Shaoling Zhang
    • , Peter Boches
    • , Chih-Wei Tung
    • , Ming-Li Wang
    • , Geo Coppens d’Eeckenbrugge
    • , Garth M. Sanewski
    • , Michael D. Purugganan
    • , Michael C. Schatz
    • , Jeffrey L. Bennetzen
    • , Christian Lexer
    •  & Ray Ming
  • Article |

    Natural variation of the F-box protein ZmFBL41 in maize confers resistance to Rhizoctonia solani, the causal fungus for banded leaf and sheath blight in maize, through decreased interaction of ZmFBL41 with the cinnamyl alcohol dehydrogenase ZmCAD.

    • Ning Li
    • , Bao Lin
    • , Hong Wang
    • , Xiaoming Li
    • , Fangfang Yang
    • , Xinhua Ding
    • , Jianbing Yan
    •  & Zhaohui Chu
  • Article |

    Analysis of iPSC-derived cardiomyocytes identifies variants associated with allele-specific effects on NKX2-5 binding. Fine-mapping and functional studies suggest that such variants underlie cardiac-specific expression quantitative trait loci and associations with electrocardiographic traits.

    • Paola Benaglio
    • , Agnieszka D’Antonio-Chronowska
    • , Wubin Ma
    • , Feng Yang
    • , William W. Young Greenwald
    • , Margaret K. R. Donovan
    • , Christopher DeBoever
    • , He Li
    • , Frauke Drees
    • , Sanghamitra Singhal
    • , Hiroko Matsui
    • , Jessica van Setten
    • , Nona Sotoodehnia
    • , Kyle J. Gaulton
    • , Erin N. Smith
    • , Matteo D’Antonio
    • , Michael G. Rosenfeld
    •  & Kelly A. Frazer
  • News & Views |

    A new study identifies germline NPM1 mutations in people with dyskeratosis congenita. These NPM1 mutations inhibit ribosomal RNA 2´-O-methylation by decreasing the binding of the rRNA methyltransferase FBL to small nucleolar RNAs. Thus, NPM1 influences ribosomal functions via epitranscriptomic regulation.

    • Fengbiao Zhou
    •  & Carsten Müller-Tidow
  • Article |

    Whole-genome sequencing of metastatic biopsies from 442 patients with breast cancer provides insights into metastatic disease, including associations of genomic features with prior treatments and identification of therapeutic vulnerabilities.

    • Lindsay Angus
    • , Marcel Smid
    • , Saskia M. Wilting
    • , Job van Riet
    • , Arne Van Hoeck
    • , Luan Nguyen
    • , Serena Nik-Zainal
    • , Tessa G. Steenbruggen
    • , Vivianne C. G. Tjan-Heijnen
    • , Mariette Labots
    • , Johanna M. G. H. van Riel
    • , Haiko J. Bloemendal
    • , Neeltje Steeghs
    • , Martijn P. Lolkema
    • , Emile E. Voest
    • , Harmen J. G. van de Werken
    • , Agnes Jager
    • , Edwin Cuppen
    • , Stefan Sleijfer
    •  & John W. M. Martens
  • Article |

    Analysis of gene expression and open chromatin regions in up to 32 immune cell populations under resting and stimulated conditions identifies widespread chromatin remodeling and shared response elements between stimulated B and T cells.

    • Diego Calderon
    • , Michelle L. T. Nguyen
    • , Anja Mezger
    • , Arwa Kathiria
    • , Fabian Müller
    • , Vinh Nguyen
    • , Ninnia Lescano
    • , Beijing Wu
    • , John Trombetta
    • , Jessica V. Ribado
    • , David A. Knowles
    • , Ziyue Gao
    • , Franziska Blaeschke
    • , Audrey V. Parent
    • , Trevor D. Burt
    • , Mark S. Anderson
    • , Lindsey A. Criswell
    • , William J. Greenleaf
    • , Alexander Marson
    •  & Jonathan K. Pritchard
  • Editorial |

    Understanding how to biologically interpret the loci identified in genome-wide association studies is a major goal of current genetics research. To achieve this goal, we need to understand where, when and how relevant genes are expressed in specific contexts, in order to explore the mechanistic links between genetic associations and diseases or complex traits.

  • Article |

    NPM1 regulates ribosomal RNA 2′-O-methylation by binding to small nucleolar RNAs, thereby modulating translation. NPM1 mutations lead to altered 2′-O-methylation and impaired ribosomal function, resulting in bone marrow failure and leukemia susceptibility.

    • Daphna Nachmani
    • , Anne H. Bothmer
    • , Silvia Grisendi
    • , Aldo Mele
    • , Dietmar Bothmer
    • , Jonathan D. Lee
    • , Emanuele Monteleone
    • , Ke Cheng
    • , Yang Zhang
    • , Assaf C. Bester
    • , Alison Guzzetti
    • , Caitlin A. Mitchell
    • , Lourdes M. Mendez
    • , Olga Pozdnyakova
    • , Paolo Sportoletti
    • , Maria-Paola Martelli
    • , Tom J. Vulliamy
    • , Modi Safra
    • , Schraga Schwartz
    • , Lucio Luzzatto
    • , Olivier Bluteau
    • , Jean Soulier
    • , Robert B. Darnell
    • , Brunangelo Falini
    • , Inderjeet Dokal
    • , Keisuke Ito
    • , John G. Clohessy
    •  & Pier Paolo Pandolfi
  • Comment |

    To increase the utility of Gene Ontology (GO) annotations for interpretation of genome-wide experimental data, we have developed GO-CAM, a structured framework for linking multiple GO annotations into an integrated model of a biological system. We expect that GO-CAM will enable new applications in pathway and network analysis, as well as improve standard GO annotations for traditional GO-based applications.

    • Paul D. Thomas
    • , David P. Hill
    • , Huaiyu Mi
    • , David Osumi-Sutherland
    • , Kimberly Van Auken
    • , Seth Carbon
    • , James P. Balhoff
    • , Laurent-Philippe Albou
    • , Benjamin Good
    • , Pascale Gaudet
    • , Suzanna E. Lewis
    •  & Christopher J. Mungall
  • Article |

    Integration of immune-disease GWAS variants with open chromatin and enhancer profiling in T cells and macrophages stimulated with different cytokines and analyzed at different time points reveals cell-state-specific enrichments for 12 complex diseases.

    • Blagoje Soskic
    • , Eddie Cano-Gamez
    • , Deborah J. Smyth
    • , Wendy C. Rowan
    • , Nikolina Nakic
    • , Jorge Esparza-Gordillo
    • , Lara Bossini-Castillo
    • , David F. Tough
    • , Christopher G. C. Larminie
    • , Paola G. Bronson
    • , David Willé
    •  & Gosia Trynka
  • Correspondence |

    • Mariano J. Alvarez
    • , Pengrong Yan
    • , Mary L. Alpaugh
    • , Michaela Bowden
    • , Ewa Sicinska
    • , Chensheng W. Zhou
    • , Charles Karan
    • , Ronald B. Realubit
    • , Prabhjot S. Mundi
    • , Adina Grunn
    • , Dirk Jäger
    • , John A. Chabot
    • , Antonio T. Fojo
    • , Paul E. Oberstein
    • , Hanina Hibshoosh
    • , Jeffrey W. Milsom
    • , Matthew H. Kulke
    • , Massimo Loda
    • , Gabriela Chiosis
    • , Diane L. Reidy-Lagunes
    •  & Andrea Califano
  • Article |

    Large-scale genomic analyses in wheat identify regions associated with 50 agronomic traits evaluated in South Asia, Africa and the Americas. This genotype–phenotype map can be used to enhance wheat productivity and stress resilience.

    • Philomin Juliana
    • , Jesse Poland
    • , Julio Huerta-Espino
    • , Sandesh Shrestha
    • , José Crossa
    • , Leonardo Crespo-Herrera
    • , Fernando Henrique Toledo
    • , Velu Govindan
    • , Suchismita Mondal
    • , Uttam Kumar
    • , Sridhar Bhavani
    • , Pawan K. Singh
    • , Mandeep S. Randhawa
    • , Xinyao He
    • , Carlos Guzman
    • , Susanne Dreisigacker
    • , Matthew N. Rouse
    • , Yue Jin
    • , Paulino Pérez-Rodríguez
    • , Osval A. Montesinos-López
    • , Daljit Singh
    • , Mohammad Mokhlesur Rahman
    • , Felix Marza
    •  & Ravi Prakash Singh
  • Article |

    Combinatorial perturbation of schizophrenia risk loci in human induced pluripotent stem cell–derived neuronal cells demonstrates a synergistic effect converging on synaptic function.

    • Nadine Schrode
    • , Seok-Man Ho
    • , Kazuhiko Yamamuro
    • , Amanda Dobbyn
    • , Laura Huckins
    • , Marliette R. Matos
    • , Esther Cheng
    • , P. J. Michael Deans
    • , Erin Flaherty
    • , Natalie Barretto
    • , Aaron Topol
    • , Khaled Alganem
    • , Sonya Abadali
    • , James Gregory
    • , Emily Hoelzli
    • , Hemali Phatnani
    • , Vineeta Singh
    • , Deeptha Girish
    • , Bruce Aronow
    • , Robert Mccullumsmith
    • , Gabriel E. Hoffman
    • , Eli A. Stahl
    • , Hirofumi Morishita
    • , Pamela Sklar
    •  & Kristen J. Brennand
  • News & Views |

    Common genetic variants increase the risk of schizophrenia, but the downstream biological mechanisms are largely unknown. A new study demonstrates that schizophrenia risk genes cause neuronal dysfunction and have synergistic effects on gene expression.

    • Jane H. Christensen
    •  & Anders D. Børglum
  • Letter |

    Mapping long-range chromatin interactions in 27 human cell/tissue types identifies candidate target genes of 70,329 putative regulatory elements. Further analysis suggests potential regulatory function for 27,325 noncoding variants associated with 2,117 traits and diseases.

    • Inkyung Jung
    • , Anthony Schmitt
    • , Yarui Diao
    • , Andrew J. Lee
    • , Tristin Liu
    • , Dongchan Yang
    • , Catherine Tan
    • , Junghyun Eom
    • , Marilynn Chan
    • , Sora Chee
    • , Zachary Chiang
    • , Changyoun Kim
    • , Eliezer Masliah
    • , Cathy L. Barr
    • , Bin Li
    • , Samantha Kuan
    • , Dongsup Kim
    •  & Bing Ren
  • Article
    | Open Access

    The first annotated chromosome-level reference genome assembly for pea, Gregor Mendel’s original genetic model, provides insights into legume genome evolution and the molecular basis of agricultural traits for pea improvement.

    • Jonathan Kreplak
    • , Mohammed-Amin Madoui
    • , Petr Cápal
    • , Petr Novák
    • , Karine Labadie
    • , Grégoire Aubert
    • , Philipp E. Bayer
    • , Krishna K. Gali
    • , Robert A. Syme
    • , Dorrie Main
    • , Anthony Klein
    • , Aurélie Bérard
    • , Iva Vrbová
    • , Cyril Fournier
    • , Leo d’Agata
    • , Caroline Belser
    • , Wahiba Berrabah
    • , Helena Toegelová
    • , Zbyněk Milec
    • , Jan Vrána
    • , HueyTyng Lee
    • , Ayité Kougbeadjo
    • , Morgane Térézol
    • , Cécile Huneau
    • , Chala J. Turo
    • , Nacer Mohellibi
    • , Pavel Neumann
    • , Matthieu Falque
    • , Karine Gallardo
    • , Rebecca McGee
    • , Bunyamin Tar’an
    • , Abdelhafid Bendahmane
    • , Jean-Marc Aury
    • , Jacqueline Batley
    • , Marie-Christine Le Paslier
    • , Noel Ellis
    • , Thomas D. Warkentin
    • , Clarice J. Coyne
    • , Jérome Salse
    • , David Edwards
    • , Judith Lichtenzveig
    • , Jiří Macas
    • , Jaroslav Doležel
    • , Patrick Wincker
    •  & Judith Burstin
  • News & Views |

    Inferring adaptation, migration and population history would be profoundly easier if we could use the genomes that we sequence to infer the true genealogical history of each locus. Two new papers bring us close to achieving this goal.

    • Kelley Harris