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Article

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.

BMC bioinformatics - 17 Nov 2012

Wu Jiantao, Grzeda Krzysztof R, Stewart Chip, Grubert Fabian, Urban Alexander E, Snyder Michael P, Marth Gabor T

Abstract excerpt

BACKGROUND: DNA capture technologies combined with high-throughput sequencing now enable cost-effective, deep-coverage, targeted sequencing of complete exomes. This is well suited for SNP discovery and genotyping. However there has been little attention devoted to Copy Number Variation (CNV) dete...

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PMID: 23157288
DOI: 10.1186/1471-2105-13-305
PMCID: PMC3563612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23157288-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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