Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

ABSTRACT:

Background

The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder variants (PFVs) that are unique to specific ethnic groups. We aimed to demonstrate a community data-driven approach to creating a pan-ethnic carrier screening panel that meets the ACMG recommendations.

Methods

Exome sequencing data from 3061 Israeli individuals were analyzed. Machine learning determined ancestries. Frequencies of candidate pathogenic/likely pathogenic (P/LP) variants based on ClinVar and Franklin were calculated for each subpopulation based on the Franklin community platform and compared with existing screening panels. Cand

SUBMITTER: Einhorn Y 

PROVIDER: S-EPMC10044388 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature