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Medientyp:
E-Artikel
Titel:
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Beteiligte:
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.
Erschienen:
Springer Science and Business Media LLC, 2021
Erschienen in:Genome Medicine
Sprache:
Englisch
DOI:
10.1186/s13073-021-00841-x
ISSN:
1756-994X
Entstehung:
Anmerkungen:
Beschreibung:
<jats:title>Abstract</jats:title><jats:p>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<jats:italic>ClinSV</jats:italic>, a WGS based SV integration, annotation, prioritization, and visualization framework, which identified 99.8% of simulated pathogenic ClinVar CNVs > 10 kb and 11/11 pathogenic variants from matched microarrays. The false positive rate was low (1.5–4.5%) and reproducibility high (95–99%). In clinical practice,<jats:italic>ClinSV</jats:italic>identified reportable variants in 22 of 485 patients (4.7%) of which 35–63% were not detectable by current clinical microarray designs.<jats:italic>ClinSV</jats:italic>is available at<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="https://github.com/KCCG/ClinSV">https://github.com/KCCG/ClinSV</jats:ext-link>.</jats:p>