Volume 50 Issue 7, July 2018

Volume 50 Issue 7

Burial and chimera

This work explores how the emergence of human cognition and our search for meaning depend upon environmental sustenance and animal health, depicting parallels between scientific and fantastic ancestral concepts of chimera, work, food and drugs, visions, birth and burial. A bored stone tool used by women to dig tubers meshes with an incised ostrich egg surrounded by protein-rich shellfish, and with the leaf fan of the psychotropic plant Boophone disticha, symbolic of prehistoric burial sites. The rock art shows human-animal figures with the shaman as eland, whose nose bleeds during the trance state, amid visions of entoptic stars and circles.

Image: Tony Cunningham. Cover Design: Tony Cunningham and Erin Dewalt.

Editorial

  • Editorial |

    In this issue, we highlight examples of the growing capability of genetic epidemiology and its intersection with genomic data to identify the underpinnings of the functions, predispositions and vulnerabilities of the human brain. In particular, we are publishing three studies into intelligence, neuroticism and epilepsy with the potential to guide interventions in education, neuroscience and medicine, respectively.

Correspondence

Letters

  • Letter |

    Meta-analysis of genome-wide association studies for cognitive ability identifies 190 new loci and implicates 939 new genes related to neurogenesis, neuron differentiation and synaptic structure.

    • Jeanne E. Savage
    • , Philip R. Jansen
    • , Sven Stringer
    • , Kyoko Watanabe
    • , Julien Bryois
    • , Christiaan A. de Leeuw
    • , Mats Nagel
    • , Swapnil Awasthi
    • , Peter B. Barr
    • , Jonathan R. I. Coleman
    • , Katrina L. Grasby
    • , Anke R. Hammerschlag
    • , Jakob A. Kaminski
    • , Robert Karlsson
    • , Eva Krapohl
    • , Max Lam
    • , Marianne Nygaard
    • , Chandra A. Reynolds
    • , Joey W. Trampush
    • , Hannah Young
    • , Delilah Zabaneh
    • , Sara Hägg
    • , Narelle K. Hansell
    • , Ida K. Karlsson
    • , Sten Linnarsson
    • , Grant W. Montgomery
    • , Ana B. Muñoz-Manchado
    • , Erin B. Quinlan
    • , Gunter Schumann
    • , Nathan G. Skene
    • , Bradley T. Webb
    • , Tonya White
    • , Dan E. Arking
    • , Dimitrios Avramopoulos
    • , Robert M. Bilder
    • , Panos Bitsios
    • , Katherine E. Burdick
    • , Tyrone D. Cannon
    • , Ornit Chiba-Falek
    • , Andrea Christoforou
    • , Elizabeth T. Cirulli
    • , Eliza Congdon
    • , Aiden Corvin
    • , Gail Davies
    • , Ian J. Deary
    • , Pamela DeRosse
    • , Dwight Dickinson
    • , Srdjan Djurovic
    • , Gary Donohoe
    • , Emily Drabant Conley
    • , Johan G. Eriksson
    • , Thomas Espeseth
    • , Nelson A. Freimer
    • , Stella Giakoumaki
    • , Ina Giegling
    • , Michael Gill
    • , David C. Glahn
    • , Ahmad R. Hariri
    • , Alex Hatzimanolis
    • , Matthew C. Keller
    • , Emma Knowles
    • , Deborah Koltai
    • , Bettina Konte
    • , Jari Lahti
    • , Stephanie Le Hellard
    • , Todd Lencz
    • , David C. Liewald
    • , Edythe London
    • , Astri J. Lundervold
    • , Anil K. Malhotra
    • , Ingrid Melle
    • , Derek Morris
    • , Anna C. Need
    • , William Ollier
    • , Aarno Palotie
    • , Antony Payton
    • , Neil Pendleton
    • , Russell A. Poldrack
    • , Katri Räikkönen
    • , Ivar Reinvang
    • , Panos Roussos
    • , Dan Rujescu
    • , Fred W. Sabb
    • , Matthew A. Scult
    • , Olav B. Smeland
    • , Nikolaos Smyrnis
    • , John M. Starr
    • , Vidar M. Steen
    • , Nikos C. Stefanis
    • , Richard E. Straub
    • , Kjetil Sundet
    • , Henning Tiemeier
    • , Aristotle N. Voineskos
    • , Daniel R. Weinberger
    • , Elisabeth Widen
    • , Jin Yu
    • , Goncalo Abecasis
    • , Ole A. Andreassen
    • , Gerome Breen
    • , Lene Christiansen
    • , Birgit Debrabant
    • , Danielle M. Dick
    • , Andreas Heinz
    • , Jens Hjerling-Leffler
    • , M. Arfan Ikram
    • , Kenneth S. Kendler
    • , Nicholas G. Martin
    • , Sarah E. Medland
    • , Nancy L. Pedersen
    • , Robert Plomin
    • , Tinca J. C. Polderman
    • , Stephan Ripke
    • , Sophie van der Sluis
    • , Patrick F. Sullivan
    • , Scott I. Vrieze
    • , Margaret J. Wright
    •  & Danielle Posthuma

    Collection:

  • Letter |

    A meta-analysis of genome-wide association studies for neuroticism identifies novel loci, pathways and potential drug targets. Further analysis implicates specific brain regions and evaluates genetic overlap with other neuropsychiatric traits.

    • Mats Nagel
    • , Philip R. Jansen
    • , Sven Stringer
    • , Kyoko Watanabe
    • , Christiaan A. de Leeuw
    • , Julien Bryois
    • , Jeanne E. Savage
    • , Anke R. Hammerschlag
    • , Nathan G. Skene
    • , Ana B. Muñoz-Manchado
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , Nicholas A. Furlotte
    • , David A. Hinds
    • , Bethann S. Hromatka
    • , Karen E. Huber
    • , Aaron Kleinman
    • , Nadia K. Litterman
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Elizabeth S. Noblin
    • , Carrie A. M. Northover
    • , Steven J. Pitts
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Tonya White
    • , Henning Tiemeier
    • , Sten Linnarsson
    • , Jens Hjerling-Leffler
    • , Tinca J. C. Polderman
    • , Patrick F. Sullivan
    • , Sophie van der Sluis
    •  & Danielle Posthuma

    Collection:

  • Letter |

    A large meta-analysis combining genome-wide and custom high-density genotyping array data identifies 63 new susceptibility loci for prostate cancer, enhancing fine-mapping efforts and providing insights into the underlying biology.

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

    Analysis of paralog gene pairs using data from loss-of-function genetic screens in cancer cells identifies MAGOH and MAGOHB as reciprocal paralog dependencies across cancer types.

    • Srinivas R. Viswanathan
    • , Marina F. Nogueira
    • , Colin G. Buss
    • , John M. Krill-Burger
    • , Mathias J. Wawer
    • , Edyta Malolepsza
    • , Ashton C. Berger
    • , Peter S. Choi
    • , Juliann Shih
    • , Alison M. Taylor
    • , Benjamin Tanenbaum
    • , Chandra Sekhar Pedamallu
    • , Andrew D. Cherniack
    • , Pablo Tamayo
    • , Craig A. Strathdee
    • , Kasper Lage
    • , Steven A. Carr
    • , Monica Schenone
    • , Sangeeta N. Bhatia
    • , Francisca Vazquez
    • , Aviad Tsherniak
    • , William C. Hahn
    •  & Matthew Meyerson
  • Letter |

    Multiregional analysis in 54 childhood cancers highlights four evolutionary patterns of intratumoral variation. Multiple patterns are often found in the same tumor, suggesting that tumors follow different evolutionary strategies concurrently.

    • Jenny Karlsson
    • , Anders Valind
    • , Linda Holmquist Mengelbier
    • , Sofia Bredin
    • , Louise Cornmark
    • , Caroline Jansson
    • , Amina Wali
    • , Johan Staaf
    • , Björn Viklund
    • , Ingrid Øra
    • , Anna Börjesson
    • , Torbjörn Backman
    • , Noémie Braekeveldt
    • , Bengt Sandstedt
    • , Niklas Pal
    • , Anders Isaksson
    • , Barbara Gürtl Lackner
    • , Tord Jonson
    • , Daniel Bexell
    •  & David Gisselsson
  • Letter |

    Whole-genome sequencing of 303 Vibrio cholerae isolates taken from individuals and households over time in Bangladesh provides insight into the dynamics of cholera diversity and transmission in an endemic setting.

    • Daryl Domman
    • , Fahima Chowdhury
    • , Ashraful I. Khan
    • , Matthew J. Dorman
    • , Ankur Mutreja
    • , Muhammad Ikhtear Uddin
    • , Anik Paul
    • , Yasmin A. Begum
    • , Richelle C. Charles
    • , Stephen B. Calderwood
    • , Taufiqur R. Bhuiyan
    • , Jason B. Harris
    • , Regina C. LaRocque
    • , Edward T. Ryan
    • , Firdausi Qadri
    •  & Nicholas R. Thomson

Articles

  • Article |

    Integration of expression quantitative trait locus (eQTL) data from the Genotype-Tissue Expression project with genome-wide association study data shows that eQTLs are enriched for trait associations in disease-relevant tissues.

    • Eric R. Gamazon
    • , Ayellet V. Segrè
    • , Martijn van de Bunt
    • , Xiaoquan Wen
    • , Hualin S. Xi
    • , Farhad Hormozdiari
    • , Halit Ongen
    • , Anuar Konkashbaev
    • , Eske M. Derks
    • , François Aguet
    • , Jie Quan
    • , Dan L. Nicolae
    • , Eleazar Eskin
    • , Manolis Kellis
    • , Gad Getz
    • , Mark I. McCarthy
    • , Emmanouil T. Dermitzakis
    • , Nancy J. Cox
    •  & Kristin G. Ardlie
  • Article |

    A transcriptome-wide association study identifies associations of genetically predicted gene expression with breast cancer risk. This analysis finds 48 candidate genes implicated in breast cancer susceptibility, including 14 at novel loci.

    • Lang Wu
    • , Wei Shi
    • , Jirong Long
    • , Xingyi Guo
    • , Kyriaki Michailidou
    • , Jonathan Beesley
    • , Manjeet K. Bolla
    • , Xiao-Ou Shu
    • , Yingchang Lu
    • , Qiuyin Cai
    • , Fares Al-Ejeh
    • , Esdy Rozali
    • , Qin Wang
    • , Joe Dennis
    • , Bingshan Li
    • , Chenjie Zeng
    • , Helian Feng
    • , Alexander Gusev
    • , Richard T. Barfield
    • , Irene L. Andrulis
    • , Hoda Anton-Culver
    • , Volker Arndt
    • , Kristan J. Aronson
    • , Paul L. Auer
    • , Myrto Barrdahl
    • , Caroline Baynes
    • , Matthias W. Beckmann
    • , Javier Benitez
    • , Marina Bermisheva
    • , Carl Blomqvist
    • , Natalia V. Bogdanova
    • , Stig E. Bojesen
    • , Hiltrud Brauch
    • , Hermann Brenner
    • , Louise Brinton
    • , Per Broberg
    • , Sara Y. Brucker
    • , Barbara Burwinkel
    • , Trinidad Caldés
    • , Federico Canzian
    • , Brian D. Carter
    • , J. Esteban Castelao
    • , Jenny Chang-Claude
    • , Xiaoqing Chen
    • , Ting-Yuan David Cheng
    • , Hans Christiansen
    • , Christine L. Clarke
    • , Margriet Collée
    • , Sten Cornelissen
    • , Fergus J. Couch
    • , David Cox
    • , Angela Cox
    • , Simon S. Cross
    • , Julie M. Cunningham
    • , Kamila Czene
    • , Mary B. Daly
    • , Peter Devilee
    • , Kimberly F. Doheny
    • , Thilo Dörk
    • , Isabel dos-Santos-Silva
    • , Martine Dumont
    • , Miriam Dwek
    • , Diana M. Eccles
    • , Ursula Eilber
    • , A. Heather Eliassen
    • , Christoph Engel
    • , Mikael Eriksson
    • , Laura Fachal
    • , Peter A. Fasching
    • , Jonine Figueroa
    • , Dieter Flesch-Janys
    • , Olivia Fletcher
    • , Henrik Flyger
    • , Lin Fritschi
    • , Marike Gabrielson
    • , Manuela Gago-Dominguez
    • , Susan M. Gapstur
    • , Montserrat García-Closas
    • , Mia M. Gaudet
    • , Maya Ghoussaini
    • , Graham G. Giles
    • , Mark S. Goldberg
    • , David E. Goldgar
    • , Anna González-Neira
    • , Pascal Guénel
    • , Eric Hahnen
    • , Christopher A. Haiman
    • , Niclas Håkansson
    • , Per Hall
    • , Emily Hallberg
    • , Ute Hamann
    • , Patricia Harrington
    • , Alexander Hein
    • , Belynda Hicks
    • , Peter Hillemanns
    • , Antoinette Hollestelle
    • , Robert N. Hoover
    • , John L. Hopper
    • , Guanmengqian Huang
    • , Keith Humphreys
    • , David J. Hunter
    • , Anna Jakubowska
    • , Wolfgang Janni
    • , Esther M. John
    • , Nichola Johnson
    • , Kristine Jones
    • , Michael E. Jones
    • , Audrey Jung
    • , Rudolf Kaaks
    • , Michael J. Kerin
    • , Elza Khusnutdinova
    • , Veli-Matti Kosma
    • , Vessela N. Kristensen
    • , Diether Lambrechts
    • , Loic Le Marchand
    • , Jingmei Li
    • , Sara Lindström
    • , Jolanta Lissowska
    • , Wing-Yee Lo
    • , Sibylle Loibl
    • , Jan Lubinski
    • , Craig Luccarini
    • , Michael P. Lux
    • , Robert J. MacInnis
    • , Tom Maishman
    • , Ivana Maleva Kostovska
    • , Arto Mannermaa
    • , JoAnn E. Manson
    • , Sara Margolin
    • , Dimitrios Mavroudis
    • , Hanne Meijers-Heijboer
    • , Alfons Meindl
    • , Usha Menon
    • , Jeffery Meyer
    • , Anna Marie Mulligan
    • , Susan L. Neuhausen
    • , Heli Nevanlinna
    • , Patrick Neven
    • , Sune F. Nielsen
    • , Børge G. Nordestgaard
    • , Olufunmilayo I. Olopade
    • , Janet E. Olson
    • , Håkan Olsson
    • , Paolo Peterlongo
    • , Julian Peto
    • , Dijana Plaseska-Karanfilska
    • , Ross Prentice
    • , Nadege Presneau
    • , Katri Pylkäs
    • , Brigitte Rack
    • , Paolo Radice
    • , Nazneen Rahman
    • , Gad Rennert
    • , Hedy S. Rennert
    • , Valerie Rhenius
    • , Atocha Romero
    • , Jane Romm
    • , Anja Rudolph
    • , Emmanouil Saloustros
    • , Dale P. Sandler
    • , Elinor J. Sawyer
    • , Marjanka K. Schmidt
    • , Rita K. Schmutzler
    • , Andreas Schneeweiss
    • , Rodney J. Scott
    • , Christopher G. Scott
    • , Sheila Seal
    • , Mitul Shah
    • , Martha J. Shrubsole
    • , Ann Smeets
    • , Melissa C. Southey
    • , John J. Spinelli
    • , Jennifer Stone
    • , Harald Surowy
    • , Anthony J. Swerdlow
    • , Rulla M. Tamimi
    • , William Tapper
    • , Jack A. Taylor
    • , Mary Beth Terry
    • , Daniel C. Tessier
    • , Abigail Thomas
    • , Kathrin Thöne
    • , Rob A. E. M. Tollenaar
    • , Diana Torres
    • , Thérèse Truong
    • , Michael Untch
    • , Celine Vachon
    • , David Van Den Berg
    • , Daniel Vincent
    • , Quinten Waisfisz
    • , Clarice R. Weinberg
    • , Camilla Wendt
    • , Alice S. Whittemore
    • , Hans Wildiers
    • , Walter C. Willett
    • , Robert Winqvist
    • , Alicja Wolk
    • , Lucy Xia
    • , Xiaohong R. Yang
    • , Argyrios Ziogas
    • , Elad Ziv
    • , Alison M. Dunning
    • , Paul D. P. Pharoah
    • , Jacques Simard
    • , Roger L. Milne
    • , Stacey L. Edwards
    • , Peter Kraft
    • , Douglas F. Easton
    • , Georgia Chenevix-Trench
    •  & Wei Zheng
  • Article |

    This study presents OncoTreat, a framework for the prioritization of compounds targeting mechanistic tumor dependencies in individual patients.

    • Mariano J. Alvarez
    • , Prem S. Subramaniam
    • , Laura H. Tang
    • , Adina Grunn
    • , Mahalaxmi Aburi
    • , Gabrielle Rieckhof
    • , Elena V. Komissarova
    • , Elizabeth A. Hagan
    • , Lisa Bodei
    • , Paul A. Clemons
    • , Filemon S. Dela Cruz
    • , Deepti Dhall
    • , Daniel Diolaiti
    • , Douglas A. Fraker
    • , Afshin Ghavami
    • , Daniel Kaemmerer
    • , Charles Karan
    • , Mark Kidd
    • , Kyoung M. Kim
    • , Hee C. Kim
    • , Lakshmi P. Kunju
    • , Ülo Langel
    • , Zhong Li
    • , Jeeyun Lee
    • , Hai Li
    • , Virginia LiVolsi
    • , Roswitha Pfragner
    • , Allison R. Rainey
    • , Ronald B. Realubit
    • , Helen Remotti
    • , Jakob Regberg
    • , Robert Roses
    • , Anil Rustgi
    • , Antonia R. Sepulveda
    • , Stefano Serra
    • , Chanjuan Shi
    • , Xiaopu Yuan
    • , Massimo Barberis
    • , Roberto Bergamaschi
    • , Arul M. Chinnaiyan
    • , Tony Detre
    • , Shereen Ezzat
    • , Andrea Frilling
    • , Merten Hommann
    • , Dirk Jaeger
    • , Michelle K. Kim
    • , Beatrice S. Knudsen
    • , Andrew L. Kung
    • , Emer Leahy
    • , David C. Metz
    • , Jeffrey W. Milsom
    • , Young S. Park
    • , Diane Reidy-Lagunes
    • , Stuart Schreiber
    • , Kay Washington
    • , Bertram Wiedenmann
    • , Irvin Modlin
    •  & Andrea Califano
  • Article |

    The authors describe the MiCEE complex, which comprises Mirlet7d ncRNA duplexes bound by C1D, the RNA exosome complex, and PRC2. MiCEE regulates bidirectionally transcribed loci and nucleolar organization.

    • Indrabahadur Singh
    • , Adriana Contreras
    • , Julio Cordero
    • , Karla Rubio
    • , Stephanie Dobersch
    • , Stefan Günther
    • , Sylvia Jeratsch
    • , Aditi Mehta
    • , Marcus Krüger
    • , Johannes Graumann
    • , Werner Seeger
    • , Gergana Dobreva
    • , Thomas Braun
    •  & Guillermo Barreto
  • Article |

    MTF2 is shown to directly bind DNA and recruit PRC2 in mouse embryonic stem cells. MTF2 selectively binds regions with a high density of unmethylated CpGs in a context of reduced helix twist.

    • Matteo Perino
    • , Guido van Mierlo
    • , Ino D. Karemaker
    • , Siebe van Genesen
    • , Michiel Vermeulen
    • , Hendrik Marks
    • , Simon J. van Heeringen
    •  & Gert Jan C. Veenstra
  • Article |

    The authors show that the transcription factor Grainy head (Grh) is necessary and sufficient for opening of epithelial enhancers, but not for their activation. Grh is shown to function as a pioneer factor, displacing nucleosomes and paving the way for other transcription factors to activate enhancers.

    • Jelle Jacobs
    • , Mardelle Atkins
    • , Kristofer Davie
    • , Hana Imrichova
    • , Lucia Romanelli
    • , Valerie Christiaens
    • , Gert Hulselmans
    • , Delphine Potier
    • , Jasper Wouters
    • , Ibrahim I. Taskiran
    • , Giulia Paciello
    • , Carmen B. González-Blas
    • , Duygu Koldere
    • , Sara Aibar
    • , Georg Halder
    •  & Stein Aerts
  • Article |

    The roles of of Gorab in the Golgi and in centriole structure and function can be separated mutationally in Drosophila. Complexed to Sas6 in the centriolar cartwheel, Gorab is essential for mitotic centriole duplication in the fly.

    • Levente Kovacs
    • , Jennifer Chao-Chu
    • , Sandra Schneider
    • , Marco Gottardo
    • , George Tzolovsky
    • , Nikola S. Dzhindzhev
    • , Maria Giovanna Riparbelli
    • , Giuliano Callaini
    •  & David M. Glover

Analysis

  • Analysis |

    A new set of functional annotations based on fine-mapped molecular quantitative trait loci from GTEx and BLUEPRINT consortium data are enriched for disease heritability across 41 diseases and complex traits.

    • Farhad Hormozdiari
    • , Steven Gazal
    • , Bryce van de Geijn
    • , Hilary K. Finucane
    • , Chelsea J.-T. Ju
    • , Po-Ru Loh
    • , Armin Schoech
    • , Yakir Reshef
    • , Xuanyao Liu
    • , Luke O’Connor
    • , Alexander Gusev
    • , Eleazar Eskin
    •  & Alkes L. Price
  • Analysis |

    Analysis of individuals with neurodevelopmental disorders (NDDs) with epilepsy identifies 33 genes with a significant excess of de novo variants. Comparison of rates of de novo variants between NDDs with or without epilepsy highlights differences between these phenotypic groups.

    • Henrike O. Heyne
    • , Tarjinder Singh
    • , Hannah Stamberger
    • , Rami Abou Jamra
    • , Hande Caglayan
    • , Dana Craiu
    • , Peter De Jonghe
    • , Renzo Guerrini
    • , Katherine L. Helbig
    • , Bobby P. C. Koeleman
    • , Jack A. Kosmicki
    • , Tarja Linnankivi
    • , Patrick May
    • , Hiltrud Muhle
    • , Rikke S. Møller
    • , Bernd A. Neubauer
    • , Aarno Palotie
    • , Manuela Pendziwiat
    • , Pasquale Striano
    • , Sha Tang
    • , Sitao Wu
    • , Zaid Afawi
    • , Carolien de Kovel
    • , Petia Dimova
    • , Tania Djémié
    • , Milda Endziniene
    • , Dorota Hoffman-Zacharska
    • , Johanna Jähn
    • , Christian Korff
    • , Anna-Elina Lehesjoki
    • , Carla Marini
    • , Stefanie H. Müller
    • , Deb Pal
    • , Niklas Schwarz
    • , Kaja Selmer
    • , Jose Serratosa
    • , Ulrich Stephani
    • , Katalin Štěrbová
    • , Arvid Suls
    • , Steffen Syrbe
    • , Inga Talvik
    • , Shan Tang
    • , Sarah von Spiczak
    • , Federico Zara
    • , Annapurna Poduri
    • , Yvonne G. Weber
    • , Sarah Weckhuysen
    • , Sanjay M. Sisodiya
    • , Mark J. Daly
    • , Ingo Helbig
    • , Dennis Lal
    •  & Johannes R. Lemke

Technical Reports

  • Technical Report |

    BayesTyper is a new probabilistic genotyping algorithm that offers superior sensitivity and accuracy relative to existing methods by using exact alignment of read k-mers to a graph representation of the reference and candidate variants.

    • Jonas Andreas Sibbesen
    • , Lasse Maretty
    •  & Anders Krogh