An integrated map of structural variation in 2,504 human genomes
Abstrak
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.
Penulis (82)
Peter Sudmant
T. Rausch
E. Gardner
R. Handsaker
A. Abyzov
J. Huddleston
Yan Zhang
Kai Ye
G. Jun
Markus Hsi-Yang Fritz
Miriam K. Konkel
A. Malhotra
A. Stütz
Xinghua Shi
Francesco Paolo Casale
Jieming Chen
F. Hormozdiari
Gargi Dayama
Ken Chen
Maika Malig
Mark J. P. Chaisson
Klaudia Walter
Sascha Meiers
Seva Kashin
Erik P. Garrison
A. Auton
Hugo Y. K. Lam
Xinmeng Jasmine Mu
C. Alkan
D. Antaki
Taejeong Bae
Eliza Cerveira
P. Chines
Zechen Chong
Laura Clarke
E. Dal
L. Ding
Sarah B. Emery
Xian Fan
Madhusudan Gujral
F. Kahveci
J. Kidd
Yu Kong
Eric-Wubbo Lameijer
Shane A. McCarthy
Paul Flicek
R. Gibbs
Gabor T. Marth
C. Mason
A. Menelaou
D. Muzny
Bradley J. Nelson
Amina Noor
N. Parrish
Matthew Pendleton
Andrew Quitadamo
Benjamin Raeder
E. Schadt
Mallory Romanovitch
A. Schlattl
R. Sebra
A. Shabalin
A. Untergasser
Jerilyn A. Walker
Min Wang
F. Yu
Chengsheng Zhang
Jing Zhang
Xiangqun Zheng-Bradley
Wanding Zhou
T. Zichner
J. Sebat
M. Batzer
S. Mccarroll
Ryan E. Mills
M. Gerstein
A. Bashir
O. Stegle
S. Devine
Charles Lee
E. Eichler
J. Korbel
Akses Cepat
- Tahun Terbit
- 2015
- Bahasa
- en
- Total Sitasi
- 2207×
- Sumber Database
- Semantic Scholar
- DOI
- 10.1038/nature15394
- Akses
- Open Access ✓