Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.

ABSTRACT: Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.0) revealed a significant carrier burden of pathogenic/likely pathogenic (P/LP) variants in genes associated with autosomal-recessive conditions across diverse ancestral populations. Carrier screening panels are routinely offered to reproductive partners to inform their risk of having an affected child. Current guidelines from the American College of Medical Genetics and Genomics (ACMG) recommend screening for genes with a carrier frequency of at least 1/200 and associated with moderate/severe conditions. Here, we systematically analyzed >700,000 gnomAD v.4.1.0 exomes spanning eight ancestries to estimate the carrier frequency of P/LP variants in 2,987 genes associated with autosomal-recessive c

SUBMITTER: Schmitz MJ 

PROVIDER: S-EPMC11739870 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature