Article
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Nature genetics - 1 May 2010
Conrad Donald F, Bird Christine, Blackburne Ben, Lindsay Sarah, Mamanova Lira, Lee Charles, Turner Daniel J, Hurles Matthew E
Abstract excerpt
Precisely characterizing the breakpoints of copy number variants (CNVs) is crucial for assessing their functional impact. However, fewer than 10% 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 three unrelated individuals in previous array-based CNV discovery experiments. We used targeted hybridization-based...
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