Good news! What a gigantic undertaking to the benefit of humanity!
Note the Nature journal could not resist to use the ideological term "Eurocentric"!
"GenomeIndia is a pioneering scientific project funded by the Department of Biotechnology, Ministry of Science and Technology, Government of India. The project marks a landmark collaboration of 20 academic and research institutions to drive a genomics-based health revolution for India.
The primary objective of GenomeIndia is to build a comprehensive catalogue of genetic variations that reflect the unique diversity of the Indian population. ..."
"“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. ..."
"... The atlas captures many rare variants from the DNA of specific communities, reflecting a long history of migration, isolation, and marriage within a group (endogamy) ..."
"... Some tribal groups show genetic homozygosity more than five times higher than Ashkenazi Jewish and Finnish populations, considered global benchmarks of genetic isolation. This elevates the risk of recessive genetic diseases — conditions requiring two defective copies of the same gene — which become far more likely when both parents trace back to the same small ancestral pool.
27 of 29 tribal populations carried at least one disease-causing variant at clinically meaningful frequencies.
In one tribal group from southern India, a harmful change in the HGD gene linked to alkaptonuria — a rare metabolic disease that can cause serious damage to joints and organs — was found in 12.5% of people. It was absent from widely used reference datasets, and standard genetic tests built on existing databases likely miss it. ...
The dataset flags other such loss-of-function (LoF) variants linked to metabolic disorders — genetic alterations that inactivate or reduce a gene's functional capacity — such as in LPA and CD36, both central to lipid metabolism and cardiovascular risk. In all, it reports 15,849 high-confidence LoF variants across more than 7,000 genes, some of which heighten disease risk, while others may be neutral or even protective. ...
Among the known variants, the BCHE rs104893684 — linked to anaesthesia-related complications — stands out as far more widespread than previously thought. Detected in 29 of the 83 populations studied, it appears at frequencies above 1% in three of those groups, a level not previously recognised. Earlier evidence tied this variant to just one Indian population, prompting targeted screening advice. ..."
From the abstract:
"India, the most populous country, remains significantly underrepresented in the global genomics landscape. Previous efforts to catalog Indian genetic diversity were limited in scale, scope, and representation.
Here, we present the GenomeIndia dataset, comprising whole genome sequences of 9,768 healthy individuals from 83 populations spanning the ethnolinguistic and biogeographic spectrum of India.
We identify 129.93 million high-confidence biallelic variants, 44.03 million of which are previously unreported in global databases.
In contrast to large populations that show steady population growth and internal homogeneity, we observe low effective population sizes, significant genetic drift, and profound homozygosity in small tribal groups, likely shaped by antiquity, isolation, and endogamy.
We report multiple population-specific pharmacogenomic and deleterious variants, necessitating the integration of local genetic architecture and the inclusion of underrepresented South Asian genomes in global reference resources. Finally, we highlight the limited transferability of Eurocentric polygenic scores to Indian populations, and present an imputation panel that outperforms existing resources for both rare and common variants.
Together, our work fills a significant gap in the equity of global human genomics, and paves way for precision medicine strategies that will benefit a quarter of the world population."
India’s DNA Map Uncovers Millions of Genetic Variants - Human Progress
