Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

ABSTRACT: Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain in accurate classification of CNV pathogenicity. CNV calling using GATK-gCNV was performed on exomes from a cohort of 6,633 families (15,759 individuals) with heterogeneous phenotypes and variable prior genetic testing collected at the Broad Institute Center for Mendelian Genomics of the GREGoR consortium. Each family's CNV data was analyzed using the seqr platform and candidate CNVs classified using the 2020 ACMG/ClinGen CNV interpretation standards. We developed additional evidence criteria to address situations not covered by the current standards. The addition of CNV ca

SUBMITTER: Lemire G 

PROVIDER: S-EPMC10593084 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature