The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort.

ABSTRACT: The Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking genomic, phenotypic, and environmental data from a diverse Mid-South population, including underrepresented groups. We analyzed 13,152 exomes from BIG and found significant genetic diversity, with 50% of participants inferred to have non-European or several types of admixed ancestry. Ancestry within the BIG cohort is stratified, with distinct geographic and demographic patterns, as African ancestry is more common in urban areas, while European ancestry is more common in suburban regions. We observe ancestry-specific rates of novel genetic variants, which are enriched for functional or clinical relevance. Disease prevalence analysis link

SUBMITTER: Buonaiuto S 

PROVIDER: S-EPMC11722445 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature