Genetic disease risks of under-represented founder populations in New York City.

ABSTRACT: The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community. We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai BioMe biobank. From these groups we defined 7 as founder populations, mostly communities currently under-represented in medical genomics research, such as Puerto Rican and Garifuna. The enrichment analysis of ClinVar pathogenic or likely pathogenic (P/LP) variants in each group identified 201 of these damaging variants across the seven founder population

SUBMITTER: Isshiki M 

PROVIDER: S-EPMC12208467 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature