Ontology highlight
ABSTRACT:
SUBMITTER: Conrad DF
PROVIDER: S-EPMC3428939 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Conrad Donald F DF Bird Christine C Blackburne Ben B Lindsay Sarah S Mamanova Lira L Lee Charles C Turner Daniel J DJ Hurles Matthew E ME
Nature genetics 20100404 5
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 DNA capture and 454 sequencing to sequence 324 CNV breakpoints, including 315 deletio ...[more]