| Literature DB >> 33632298 |
Andre E Minoche1,2, Ben Lundie3, Greg B Peters4, Thomas Ohnesorg3,5, Mark Pinese6,7, David M Thomas8,9, Andreas Zankl3,10,11, Tony Roscioli12,13,14,15, Nicole Schonrock3,5, Sarah Kummerfeld3,8, Leslie Burnett3,8,5,11, Marcel E Dinger3,16, Mark J Cowley17,18,19,20.
Abstract
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 pathogenic variants from matched microarrays. The false positive rate was low (1.5-4.5%) and reproducibility high (95-99%). In clinical practice, ClinSV identified reportable variants in 22 of 485 patients (4.7%) of which 35-63% were not detectable by current clinical microarray designs. ClinSV is available at https://github.com/KCCG/ClinSV .Entities:
Keywords: Clinical genome; Copy number variation; Microarray; Rare disease; Structural variation; Whole genome sequencing
Mesh：
Year: 2021 PMID： 33632298 PMCID： PMC7908648 DOI： 10.1186/s13073-021-00841-x
Source DB: PubMed Journal: Genome Med ISSN： 1756-994X Impact factor: 11.117