ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Genome Med
; 13(1): 32, 2021 02 25.
Article
en En
| MEDLINE
| ID: mdl-33632298
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 .
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Variaciones en el Número de Copia de ADN
/
Secuenciación Completa del Genoma
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Genome Med
Año:
2021
Tipo del documento:
Article
País de afiliación:
Australia