Fecha de publicación: -- Fuente: PubMed "nature biotechnology" J Genet Genomics. 2026 Nov 9:S1673-8527(26)00340-1. doi: 10.1016/j.jgg.2026.11.002. Online ahead of print.ABSTRACTIndia harbors over 4600 endogamous ethnolinguistic groups shaped by multiple waves of migration, long-term isolation, and social stratification. Odisha, an eastern state of India, is home to 62 indigenous tribal groups, many of which remain genetically understudied. We perform high-coverage whole-exome sequencing of 13 tribal groups (n = 515) from Odisha, collectively termed OdiTribe. We identify 625,596 single-nucleotide variants (SNVs), of which 37.02% are rare, and 5.54% (n = 34,667) are unreported non-singletons (AC > 1). Population genetic analyses reveal that the OdiTribe populations broadly overlap with Austroasiatic- and Dravidian-speaking tribal populations, while also exhibiting heterogeneity across subgroups. Outgroup f3 statistics reveal high shared drift between Bonda and the Nicobarese. Approximately 43% of the individuals show elevated inbreeding coefficients (≥0.0156), and 14.17% carry ROH segments >8 Mb, indicative of recent consanguinity. Functional annotation identifies pathogenic variants in HBB, HBD, BTD, and BRCA2 genes, as well as multiple homozygous high-confidence predicted loss-of-function (HC-pLoF) variants across the dataset. Our study provides exome-wide insights into genetic diversity, endogamy, and population-specific variants of potential clinical relevance among endogamous indigenous tribal populations, underscoring the importance of including isolated and underrepresented groups in population and medical genetics research.PMID:43003182 | DOI:10.1016/j.jgg.2026.11.002