Volume 29, Issue 7 | July 2019

Research
- - Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
    Joanna Kaplanis
    Nadia Akawi
    Giuseppe Gallone
    Jeremy F. McRae
    Elena Prigmore
    Caroline F. Wright
    ...[+1 authors]...,
    David R. Fitzpatrick
    Helen V. Firth
    Jeffrey C. Barrett
    Matthew E. Hurles
    First Published June 21, 2019
  - Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
    Aaron R. Jeffries
    Reza Maroofian
    Claire G. Salter
    Barry A. Chioza
    Harold E. Cross
    Michael A. Patton Emma Dempster I. Karen Temple Deborah J.G. Mackay Faisal I. Rezwan Lise Aksglaede Diana Baralle Tabib Dabir Matthew F. Hunter Arveen Kamath Ajith Kumar Ruth Newbury-Ecob Angelo Selicorni Amanda Springer Lionel Van Maldergem Vinod Varghese Naomi Yachelevich
    ...[+17 authors]...,
    Katrina Tatton-Brown
    Jonathan Mill
    Andrew H. Crosby
    Emma L. Baple
    First Published June 3, 2019
  - Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer
    Myrthe Jager
    Francis Blokzijl
    Ewart Kuijk
    Johanna Bertl
    Maria Vougioukalaki
    Roel Janssen Nicolle Besselink Sander Boymans Joep de Ligt Jakob Skou Pedersen
    ...[+5 authors]...,
    Jan Hoeijmakers
    Joris Pothof
    Ruben van Boxtel
    Edwin Cuppen
    First Published June 20, 2019
  - Histone methyltransferase PRDM9 is not essential for meiosis in male mice
    Ondrej Mihola
    Florencia Pratto
    Kevin Brick
    Eliska Linhartova
    Tatyana Kobets
    Petr Flachs Christopher L. Baker Radislav Sedlacek
    ...[+3 authors]...,
    Kenneth Paigen
    Petko M. Petkov
    R. Daniel Camerini-Otero
    Zdenek Trachtulec
    First Published June 11, 2019
  - Kinetics of Xist-induced gene silencing can be predicted from combinations of epigenetic and genomic features
    Lisa Barros de Andrade e Sousa
    Iris Jonkers
    Laurène Syx
    Ilona Dunkel
    Julie Chaumeil
    Christel Picard Benjamin Foret Chong-Jian Chen
    ...[+3 authors]...,
    John T. Lis
    Edith Heard
    Edda G. Schulz
    Annalisa Marsico
    First Published June 7, 2019
  - Genome wide analysis of 3′ UTR sequence elements and proteins regulating mRNA stability during maternal-to-zygotic transition in zebrafish
    Charles E. Vejnar
    Mario Abdel Messih
    Carter M. Takacs
    Valeria Yartseva
    Panos Oikonomou
    Romain Christiano Marlon Stoeckius Stephanie Lau Miler T. Lee Jean-Denis Beaudoin Damir Musaev Hiba Darwich-Codore
    ...[+7 authors]...,
    Tobias C. Walther
    Saeed Tavazoie
    Daniel Cifuentes
    Antonio J. Giraldez
    First Published June 21, 2019
  - Haploid selection drives new gene male germline expression
    Julia B. Raices
    Paulo A. Otto
    Maria D. Vibranovski
    First Published June 20, 2019
  - Nascent chromatin occupancy profiling reveals locus- and factor-specific chromatin maturation dynamics behind the DNA replication fork
    Mónica P. Gutiérrez
    Heather K. MacAlpine
    David M. MacAlpine
    First Published June 19, 2019
Methods
- - A machine-learning approach for accurate detection of copy number variants from exome sequencing
    Vijay Kumar Pounraja
    Gopal Jayakar
    Matthew Jensen
    Neil Kelkar
    Santhosh Girirajan
    First Published June 6, 2019
  - Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
    Perry Evans
    Chao Wu
    Amanda Lindy
    Dianalee A. McKnight
    Matthew Lebo
    First Published June 24, 2019
  - OMA standalone: orthology inference among public and custom genomes and transcriptomes
    Adrian M. Altenhoff
    Jeremy Levy
    Magdalena Zarowiecki
    Bartłomiej Tomiczek
    Alex Warwick Vesztrocy
    Daniel A. Dalquen Steven Müller
    ...[+2 authors]...,
    Maximilian J. Telford
    Natasha M. Glover
    David Dylus
    Christophe Dessimoz
    First Published June 24, 2019
  - Crunch: integrated processing and modeling of ChIP-seq data in terms of regulatory motifs
    Severin Berger
    Mikhail Pachkov
    Phil Arnold
    Saeed Omidi
    Nicholas Kelley
    First Published May 28, 2019
Resources
- - Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
    Wouter De Coster
    Peter De Rijk
    Arne De Roeck
    Tim De Pooter
    Svenn D'Hert
    First Published June 11, 2019
  - Early genome activation in Drosophila is extensive with an initial tendency for aborted transcripts and retained introns
    Jamie C. Kwasnieski
    Terry L. Orr-Weaver
    David P. Bartel
    First Published June 24, 2019
  - Pervasive and dynamic transcription initiation in Saccharomyces cerevisiae
    Zhaolian Lu
    Zhenguo Lin
    First Published May 10, 2019

Table of Contents

Volume 29, Issue 7 | July 2019

Research

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

Histone methyltransferase PRDM9 is not essential for meiosis in male mice

Kinetics of Xist-induced gene silencing can be predicted from combinations of epigenetic and genomic features

Genome wide analysis of 3′ UTR sequence elements and proteins regulating mRNA stability during maternal-to-zygotic transition in zebrafish

Haploid selection drives new gene male germline expression

Nascent chromatin occupancy profiling reveals locus- and factor-specific chromatin maturation dynamics behind the DNA replication fork

Methods

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

OMA standalone: orthology inference among public and custom genomes and transcriptomes

Crunch: integrated processing and modeling of ChIP-seq data in terms of regulatory motifs

Resources

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Early genome activation in Drosophila is extensive with an initial tendency for aborted transcripts and retained introns

Pervasive and dynamic transcription initiation in Saccharomyces cerevisiae

Table of Contents

Volume 29, Issue 7 | July 2019

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Research

Methods

Resources