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Article

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.

Bioinformatics (Oxford, England) - 1 Nov 2012

Plagnol Vincent, Curtis James, Epstein Michael, Mok Kin Y, Stebbings Emma, Grigoriadou Sofia, Wood Nicholas W, Hambleton Sophie, Burns Siobhan O, Thrasher Adrian J, Kumararatne Dinakantha, Doffinger Rainer, Nejentsev Sergey

Abstract excerpt

MOTIVATION: Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants (CNVs) contribute to the etiology of these disorders. However, calling CNVs from exome sequence data is challenging. A typical read depth strategy consists of using another sample (or a combination of samples) as a reference to control for the...

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PMID: 22942019
DOI: 10.1093/bioinformatics/bts526
PMCID: PMC3476336

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DOCK8
GATA2

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

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