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Article

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.

Bioinformatics (Oxford, England) - 1 Oct 2011

Sathirapongsasuti Jarupon Fah, Lee Hane, Horst Basil A J, Brunner Georg, Cochran Alistair J, Binder Scott, Quackenbush John, Nelson Stanley F

Abstract excerpt

MOTIVATION: The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection. RESULTS: We present ExomeCNV, a statistical method to...

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Identifiers

PMID: 21828086
DOI: 10.1093/bioinformatics/btr462
PMCID: PMC3179661

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-21828086-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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