Large multi-allelic copy number variations in humans

Thousands of genome segments appear to be present in widely varying copy number 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, multi-allelic CNVs (mCNVs). We analyzed 84...

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Udgivet i:Nat Genet
Main Authors: Handsaker, Robert E., Van Doren, Vanessa, Berman, Jennifer R., Genovese, Giulio, Kashin, Seva, Boettger, Linda M., McCarroll, Steven A.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4405206/
https://ncbi.nlm.nih.gov/pubmed/25621458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3200
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