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Article

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

European journal of human genetics : EJHG - 1 Dec 2017

Straver Roy, Weiss Marjan M, Waisfisz Quinten, Sistermans Erik A, Reinders Marcel J T

Abstract excerpt

In clinical genetics, detection of single nucleotide polymorphisms (SNVs) as well as copy number variations (CNVs) is essential for patient genotyping. Obtaining both CNV and SNV information from WES data would significantly simplify clinical workflow. Unfortunately, the sequence reads obtained with WES vary between samples, complicating accurate CNV detection with WES. To avoid being dependent on other samples,...

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Identifiers

PMID: 29255179
DOI: 10.1038/s41431-017-0005-2
PMCID: PMC5865163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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