Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource - PubMed
3 hours ago
- #loss-of-function variants
- #biobank
- #genomics
- The Pakistan Genome Resource is a South Asian biobank with 173,303 participants, characterized by high familial relatedness.
- It has identified naturally occurring homozygous loss-of-function variants in 6,476 genes, expanding the catalogue of human genetic variants.
- The study includes analysis of genetic architecture, gene-biomarker associations, loss-of-function variant distribution across pathways, and recall-by-genotype studies for therapeutic genes.
- This resource serves as a comprehensive genetic reference for the Pakistani population and highlights the value of studying diverse cohorts for advancing human health.