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Article

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.

BMC genomics - 14 Jan 2016

Samarakoon Pubudu Saneth, Sorte Hanne Sørmo, Stray-Pedersen Asbjørg, Rødningen Olaug Kristin, Rognes Torbjørn, Lyle Robert

Abstract excerpt

BACKGROUND: With advances in next generation sequencing technology and analysis methods, single nucleotide variants (SNVs) and indels can be detected with high sensitivity and specificity in exome sequencing data. Recent studies have demonstrated the ability to detect disease-causing copy number variants (CNVs) in exome sequencing data. However, exonic CNV prediction programs have shown high false positive CNV...

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Identifiers

PMID: 26764020
DOI: 10.1186/s12864-016-2374-2
PMCID: PMC4712464

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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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