Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

Precisely characterizing the breakpoints of copy number variants (CNVs) is crucial for assessing their functional impact. However, fewer than 0% of known germline CNVs have been mapped to the single-nucleotide level. We characterized the sequence breakpoints from a dataset of all CNVs detected in th...

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Bibliographic Details
Main Authors: Conrad, Donald F, Bird, Christine, Blackburne, Ben, Lindsay, Sarah, Mamanova, Lira, Lee, Charles, Turner, Daniel J, Hurles, Matthew E
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428939/
https://ncbi.nlm.nih.gov/pubmed/20364136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.564
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