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Article

Quantifying single nucleotide variant detection sensitivity in exome sequencing.

BMC bioinformatics - 18 Jun 2013

Meynert Alison M, Bicknell Louise S, Hurles Matthew E, Jackson Andrew P, Taylor Martin S

Abstract excerpt

BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our sensitivity to detect genuine polymorphisms. To fully interpret the polymorphisms identified in a genetic study it is often essential to both detect polymorphisms...

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Identifiers

PMID: 23773188
DOI: 10.1186/1471-2105-14-195
PMCID: PMC3695811

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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