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Semantic Scholar Open Access 2010 1124 sitasi

Mapping copy number variation by population scale genome sequencing

Ryan E. Mills Klaudia Walter C. Stewart R. Handsaker Ken Chen +52 lainnya
Lihat Sumber DOI

Abstrak

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analysing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies.

Topik & Kata Kunci

Biology Medicine

Penulis (57)

R

Ryan E. Mills

K

Klaudia Walter

C

C. Stewart

R

R. Handsaker

K

Ken Chen

C

C. Alkan

A

A. Abyzov

S

Seungtai Yoon

K

Kai Ye

R

R. K. Cheetham

A

A. Chinwalla

D

D. Conrad

Y

Yutao Fu

F

Fabian Grubert

I

I. Hajirasouliha

F

F. Hormozdiari

L

L. Iakoucheva

Z

Z. Iqbal

S

Shuli Kang

J

J. Kidd

M

Miriam K. Konkel

J

Joshua M. Korn

E

Ekta Khurana

D

Deniz Kura

H

Hugo Y. K. Lam

J

Jing Leng

R

Ruiqiang Li

Y

Yingrui Li

C

Chang-Yun Lin

R

Ruibang Luo

X

X. Mu

J

J. Nemesh

H

H. Peckham

T

T. Rausch

A

A. Scally

X

Xinghua Shi

M

Michael P. Stromberg

A

A. Stütz

A

A. Urban

J

Jerilyn A. Walker

J

Jiantao Wu

Y

Yujun Zhang

Z

Zhengdong D. Zhang

M

M. Batzer

L

L. Ding

G

G. T. Marth

G

G. McVean

J

J. Sebat

M

M. Snyder

J

Jun Wang

K

Kenny Q. Ye

E

E. Eichler

M

M. Gerstein

M

M. Hurles

C

Charles Lee

S

S. Mccarroll

J

J. Korbel

Format Sitasi

APA MLA BibTeX
Mills, R.E., Walter, K., Stewart, C., Handsaker, R., Chen, K., Alkan, C. et al. (2010). Mapping copy number variation by population scale genome sequencing. https://doi.org/10.1038/nature09708

Akses Cepat

Lihat di Sumber doi.org/10.1038/nature09708
Informasi Jurnal
Tahun Terbit
2010
Bahasa
en
Total Sitasi
1124×
Sumber Database
Semantic Scholar
DOI
10.1038/nature09708
Akses
Open Access ✓