An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant,Tobias Rausch,Eugene J. Gardner,Robert E. Handsaker,Robert E. Handsaker,Alexej Abyzov,John Huddleston,Yan Zhang,Kai Ye,Goo Jun,Goo Jun,Markus His Yang Fritz,Miriam K. Konkel,Ankit Malhotra,Adrian M. Stütz,Xinghua Shi,Francesco Paolo Casale,Jieming Chen,Fereydoun Hormozdiari,Gargi Dayama,Ken Chen,Maika Malig,Mark Chaisson,Klaudia Walter,Sascha Meiers,Seva Kashin,Seva Kashin,Erik Garrison,Adam Auton,Hugo Y. K. Lam,Xinmeng Jasmine Mu,Xinmeng Jasmine Mu,Can Alkan,Danny Antaki,Taejeong Bae,Eliza Cerveira,Peter S. Chines,Zechen Chong,Laura Clarke,Elif Dal,Li Ding,S. Emery,Xian Fan,Madhusudan Gujral,Fatma Kahveci,Jeffrey M. Kidd,Yu Kong,Eric-Wubbo Lameijer,Shane A. McCarthy,Paul Flicek,Richard A. Gibbs,Gabor T. Marth,Christopher E. Mason,Androniki Menelaou,Androniki Menelaou,Donna M. Muzny,Bradley J. Nelson,Amina Noor,Nicholas F. Parrish,Matthew Pendleton,Andrew Quitadamo,Benjamin Raeder,Eric E. Schadt,Mallory Romanovitch,Andreas Schlattl,Robert Sebra,Andrey A. Shabalin,Andreas Untergasser,Jerilyn A. Walker,Min Wang,Fuli Yu,Chengsheng Zhang,Jing Zhang,Xiangqun Zheng-Bradley,Wanding Zhou,Thomas Zichner,Jonathan Sebat,Mark A. Batzer,Steven A. McCarroll,Steven A. McCarroll,Ryan E. Mills,Mark Gerstein,Ali Bashir,Oliver Stegle,Scott E. Devine,Charles Lee,Evan E. Eichler,Jan O. Korbel +87 more
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In this paper, the authors describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations.Abstract:
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. Our catalogue will enhance future studies into structural variant demography, functional impact and disease association.read more
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References
More filters
Journal ArticleDOI
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li,Richard Durbin +1 more
TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI
An integrated encyclopedia of DNA elements in the human genome
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI
A global reference for human genetic variation.
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Resch,Jonathan Barker,Laura Clarke,Laurent Gil,Sarah E. Hunt,Gavin Kelman,Eugene Kulesha,Rasko Leinonen,William M. McLaren,Rajesh Radhakrishnan,Asier Roa,Dmitriy Smirnov,Richard Smith,Ian Streeter,Anja Thormann,Iliana Toneva,Brendan Vaughan,Xiangqun Zheng-Bradley,Russell J. Grocock,Sean Humphray,Terena James,Zoya Kingsbury,Ralf Sudbrak,M. Albrecht,Vyacheslav Amstislavskiy,Tatiana A. Borodina,Matthias Lienhard,Florian Mertes,Marc Sultan,Bernd Timmermann,Marie-Laure Yaspo,Lucinda Fulton,Victor Ananiev,Zinaida Belaia,Dimitriy Beloslyudtsev,Nathan Bouk,Chao Chen,Deanna M. Church,Robert M. Cohen,Charles Cook,John Garner,Timothy Hefferon,Mikhail Kimelman,Chunlei Liu,John Lopez,Peter Meric,Chris O’Sullivan,Yuri Ostapchuk,Lon Phan,Sergiy Ponomarov,Valerie A. Schneider,Eugene Shekhtman,Karl Sirotkin,Douglas J. Slotta,Hua Zhang,Senduran Balasubramaniam,John Burton,Petr Danecek,Thomas M. Keane,Anja Kolb-Kokocinski,Shane A. McCarthy,James Stalker,Michael A. 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