The Karnataka Individual Genome Project expands the human reference landscape to include South Asia.

ABSTRACT: Assembling individual genomes remains an expensive endeavor, hindering large-scale comparative human genomics. So far, chromosome-level assemblies of only a few individuals, including PR1 (Puerto Rican), Ash1 (Ashkenazi Jew), Han1 (Southern Han Chinese), and CHM13 (Northern European) have been reported. Here, we present a chromosome-level genome assembly of a non-International Genome Sample Resource (IGSR) and non-Genome in a Bottle individual from the Indian subcontinent (KIn1) obtained using a cost-effective approach. We achieved an N50 of 141 Mb and an L50 of 9-very close to the maximum achievable N50 of 147 Mb and minimum achievable L50 of 8, respectively, for human genomes. We also generated chromosome-level assemblies for other individuals from the Indian diaspora, including PJL1 fro

SUBMITTER: Ganesh A 

PROVIDER: S-EPMC12513208 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature