“A genetic atlas emerging from India’s most extensive genomic sequencing exercise has revealed vast diversity in the population, with nearly 130 million genetic variants, almost a third of which have not been reported previously.

The GenomeIndia project analysed the whole genomes of 9,768 healthy people from 83 populations, uncovering 44 million variants absent from global scientific databases, including gnomAD, 1000 Genomes Project and GenomeAsia.

“We expected novel variants, but the sheer proportion stumped us,” says corresponding author and computational biologist Bratati Kahali at the Centre for Brain Research, Bengaluru. “Even after excluding variants observed only once and considering those where at least two alleles were seen, novel hits accounted for over 10% of all discoveries.”

Funded by India’s Department of Biotechnology through a consortium of 20 research institutions, the map opens up a path for investigations into human ancestry, disease genetics, pharmacogenetics and precision medicine across South Asia. Aiming to scale to a million genomes and disease-specific cohorts, the project seeks to fill gaps in global databases skewed toward populations of European descent.”

From Nature.