Large multiallelic copy number variations in humans.
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ABSTRACT:
SUBMITTER: Handsaker RE
PROVIDER: S-EPMC4405206 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Publications
Large multiallelic copy number variations in humans.
Handsaker Robert E RE Van Doren Vanessa V Berman Jennifer R JR Genovese Giulio G Kashin Seva S Boettger Linda M LM McCarroll Steven A SA
Nature genetics 20150126 3
Thousands of genomic segments appear to be present in widely varying copy numbers in different human genomes. We developed ways to use increasingly abundant whole-genome sequence data to identify the copy numbers, alleles and haplotypes present at most large multiallelic CNVs (mCNVs). We analyzed 849 genomes sequenced by the 1000 Genomes Project to identify most large (>5-kb) mCNVs, including 3,878 duplications, of which 1,356 appear to have 3 or more segregating alleles. We find that mCNVs give ...[more]
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