Mapping Copy Number Variation by Population Scale Genome Sequencing

Mapping Copy Number Variation by Population Scale Genome Sequencing

DSpace/Manakin Repository

Mapping Copy Number Variation by Population Scale Genome Sequencing

dc.contributor.author	Mills, Ryan Edward
dc.contributor.author	Handsaker, Robert E
dc.contributor.author	Korn, Joshua
dc.contributor.author	Nemesh, James
dc.contributor.author	Shi, Xinghua
dc.contributor.author	Lee, Charles
dc.contributor.author	McCarroll, Steven A.
dc.contributor.author	Altshuler, David Matthew
dc.contributor.author	Gabriel, Stacey B.
dc.contributor.author	Lander, Eric Steven
dc.contributor.author	Ambrogio, Lauren
dc.contributor.author	Bloom, Toby
dc.contributor.author	Cibulskis, Kristian
dc.contributor.author	Fennell, Tim J.
dc.contributor.author	Jaffe, David B.
dc.contributor.author	Shefler, Erica
dc.contributor.author	Sougnez, Carrie L.
dc.contributor.author	Daly, Mark Joseph
dc.contributor.author	DePristo, Mark A.
dc.contributor.author	Ball, Aaron D.
dc.contributor.author	Banks, Eric
dc.contributor.author	Bloom, Toby
dc.contributor.author	Browning, Brian L.
dc.contributor.author	Garimella, Kiran V.
dc.contributor.author	Grossman, Sharon Rachel
dc.contributor.author	Handsaker, Robert E
dc.contributor.author	Hanna, Matt
dc.contributor.author	Hartl, Chris
dc.contributor.author	Kernytsky, Andrew M.
dc.contributor.author	Li, Heng
dc.contributor.author	Maguire, Jared R.
dc.contributor.author	McKenna, Aaron
dc.contributor.author	Philippakis, Anthony Andrew
dc.contributor.author	Poplin, Ryan E.
dc.contributor.author	Price, Alkes
dc.contributor.author	Rivas, Manuel A.
dc.contributor.author	Sabeti, Pardis Christine
dc.contributor.author	Schaffner, Stephen
dc.contributor.author	Shlyakhter, Ilya
dc.contributor.author	DePristo, Mark A.
dc.contributor.author	Wilkinson, Jane
dc.date.accessioned	2011-11-02T19:17:38Z
dc.date.issued	2011
dc.identifier.citation	Mills, Ryan E., Robert E. Handsaker, Joshua Korn, James Nemesh, Xinghua Shi, Charles Lee, Steven A. McCarroll et al. 2011. Mapping copy number variation by population scale genome sequencing. Nature 470(7332): 59-65.	en_US
dc.identifier.issn	0028-0836	en_US
dc.identifier.issn	1476-4687	en_US
dc.identifier.uri	http://nrs.harvard.edu/urn-3:HUL.InstRepos:5339501
dc.description.abstract	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.	en_US
dc.description.sponsorship	Organismic and Evolutionary Biology	en_US
dc.language.iso	en_US	en_US
dc.publisher	Nature Publishing Group	en_US
dc.relation.isversionof	doi:10.1038/nature09708	en_US
dc.relation.hasversion	http://www.ncbi.nlm.nih.gov/pubmed/21293372	en_US
dash.license	OAP
dc.subject	genetics and genomics	en_US
dc.subject	molecular biology	en_US
dc.subject	evolution	en_US
dc.title	Mapping Copy Number Variation by Population Scale Genome Sequencing	en_US
dc.type	Journal Article	en_US
dc.description.version	Accepted Manuscript	en_US
dc.relation.journal	Nature	en_US
dash.depositing.author	Sabeti, Pardis Christine
dc.date.available	2011-11-02T19:17:38Z
dash.affiliation.other	Brigham and Women’s Hospital and Harvard Medical School, Department of Pathology	en_US
dash.affiliation.other	Broad Institute of MIT and Harvard University	en_US
dash.affiliation.other	Harvard Medical School, Department of Genetics	en_US
dash.affiliation.other	Harvard School of Public Health, Department of Epidemiology	en_US
dash.affiliation.other	Harvard School of Public Health, Department of Biostatistics	en_US