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dc.contributor.authorMills, Ryan Edward
dc.contributor.authorHandsaker, Robert E
dc.contributor.authorKorn, Joshua
dc.contributor.authorNemesh, James
dc.contributor.authorShi, Xinghua
dc.contributor.authorLee, Charles
dc.contributor.authorMcCarroll, Steven A.
dc.contributor.authorAltshuler, David Matthew
dc.contributor.authorGabriel, Stacey B.
dc.contributor.authorLander, Eric Steven
dc.contributor.authorAmbrogio, Lauren
dc.contributor.authorBloom, Toby
dc.contributor.authorCibulskis, Kristian
dc.contributor.authorFennell, Tim J.
dc.contributor.authorJaffe, David B.
dc.contributor.authorShefler, Erica
dc.contributor.authorSougnez, Carrie L.
dc.contributor.authorDaly, Mark Joseph
dc.contributor.authorDePristo, Mark A.
dc.contributor.authorBall, Aaron D.
dc.contributor.authorBanks, Eric
dc.contributor.authorBloom, Toby
dc.contributor.authorBrowning, Brian L.
dc.contributor.authorGarimella, Kiran V.
dc.contributor.authorGrossman, Sharon Rachel
dc.contributor.authorHandsaker, Robert E
dc.contributor.authorHanna, Matt
dc.contributor.authorHartl, Chris
dc.contributor.authorKernytsky, Andrew M.
dc.contributor.authorLi, Heng
dc.contributor.authorMaguire, Jared R.
dc.contributor.authorMcKenna, Aaron
dc.contributor.authorPhilippakis, Anthony Andrew
dc.contributor.authorPoplin, Ryan E.
dc.contributor.authorPrice, Alkes
dc.contributor.authorRivas, Manuel A.
dc.contributor.authorSabeti, Pardis Christine
dc.contributor.authorSchaffner, Stephen
dc.contributor.authorShlyakhter, Ilya
dc.contributor.authorDePristo, Mark A.
dc.contributor.authorWilkinson, Jane
dc.date.accessioned2011-11-02T19:17:38Z
dc.date.issued2011
dc.identifier.citationMills, 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.issn0028-0836en_US
dc.identifier.issn1476-4687en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:5339501
dc.description.abstractGenomic 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.sponsorshipOrganismic and Evolutionary Biologyen_US
dc.language.isoen_USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.isversionofdoi:10.1038/nature09708en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pubmed/21293372en_US
dash.licenseOAP
dc.subjectgenetics and genomicsen_US
dc.subjectmolecular biologyen_US
dc.subjectevolutionen_US
dc.titleMapping Copy Number Variation by Population Scale Genome Sequencingen_US
dc.typeJournal Articleen_US
dc.description.versionAccepted Manuscripten_US
dc.relation.journalNatureen_US
dash.depositing.authorSabeti, Pardis Christine
dc.date.available2011-11-02T19:17:38Z
dash.affiliation.otherBrigham and Women’s Hospital and Harvard Medical School, Department of Pathologyen_US
dash.affiliation.otherBroad Institute of MIT and Harvard Universityen_US
dash.affiliation.otherHarvard Medical School, Department of Geneticsen_US
dash.affiliation.otherHarvard School of Public Health, Department of Epidemiologyen_US
dash.affiliation.otherHarvard School of Public Health, Department of Biostatisticsen_US
dc.identifier.doi10.1038/nature09708*
dash.authorsorderedfalse
dash.contributor.affiliatedHandsaker, Robert
dash.contributor.affiliatedPhilippakis, Anthony Andrew
dash.contributor.affiliatedLi, Heng
dash.contributor.affiliatedMills, Ryan Edward
dash.contributor.affiliatedShi, Xinghua
dash.contributor.affiliatedGrossman, Sharon
dash.contributor.affiliatedShlyakhter, Ilya
dash.contributor.affiliatedSchaffner, Stephen
dash.contributor.affiliatedLee, Charles
dash.contributor.affiliatedMcCarroll, Steven
dash.contributor.affiliatedPrice, Alkes
dash.contributor.affiliatedSabeti, Pardis
dash.contributor.affiliatedLander, Eric
dash.contributor.affiliatedDaly, Mark
dash.contributor.affiliatedAltshuler, David


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