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Article

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.

Genome medicine - 25 Feb 2021

Minoche Andre E, Lundie Ben, Peters Greg B, Ohnesorg Thomas, Pinese Mark, Thomas David M, Zankl Andreas, Roscioli Tony, Schonrock Nicole, Kummerfeld Sarah, Burnett Leslie, Dinger Marcel E, Cowley Mark J

Abstract excerpt

Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false positive rates. Here we present ClinSV, a WGS based SV integration, annotation, prioritization, and visualization framework, which identified 99.8% of simulated pathogenic ClinVar CNVs > 10 kb and 11/11...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33632298
DOI: 10.1186/s13073-021-00841-x
PMCID: PMC7908648

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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