Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource

The Pakistan Genome Resource (PGR) has compiled biobank data from 173,303 individuals, as published online in Nature on June 17, 2026. This extensive dataset significantly broadens the catalogue of human genetic variation and establishes a population-specific genomic reference for Pakistan. The PGR's data includes a high degree of familial relatedness among its participants, offering a unique opportunity to study genetic inheritance patterns within this population. The initiative aims to enhance our understanding of genetic diversity and its implications for health and disease in South Asia. Researchers anticipate that the PGR will serve as a foundational resource for future genetic studies, enabling more precise identification of disease-associated variants and the development of targeted therapeutic strategies. The publication in Nature, a leading scientific journal, underscores the significance of this genomic resource for the global research community. The PGR project represents a substantial step forward in genomic research, particularly for underrepresented populations, and is expected to accelerate discoveries in human genetics and personalized medicine.