A harmonized public resource of deeply sequenced diverse human genomes

Koenig, Zan; Yohannes, Mary T.; Nkambule, Lethukuthula L.; Zhao, Xuefang; Goodrich, Julia K.; Kim, Heesu Ally; Wilson, Michael W.; Tiao, Grace; Hao, Stephanie P.; Sahakian, Nareh; Chao, Katherine R.; Walker, Mark A.; Lyu, Yunfei; Rehm, Heidi L.; Neale, Benjamin M.; Talkowski, Michael E.; Daly, Mark J.; Brand, Harrison; Karczewski, Konrad J.; Atkinson, Elizabeth G.; Martin, Alicia R.

doi:10.1101/gr.278378.123

articleGenome ResearchMay 1, 2024GREEN OA

A harmonized public resource of deeply sequenced diverse human genomes

ZKZan Koenig MTMary T. Yohannes LLLethukuthula L. Nkambule XZXuefang Zhao JKJulia K. Goodrich

Broad Institute · Massachusetts General Hospital · +6 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

Underrepresented populations are often excluded from genomic studies owing in part to a lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high coverage, are valuable genomic resources because of the global diversity they capture and their open data sharing policies. Here, we harmonized a high-quality set of 4094 whole genomes from 80 populations in the HGDP and 1kGP with data from the Genome Aggregation Database (gnomAD) and identified over 153 million high-quality SNVs, indels, and SVs. We performed a detailed ancestry analysis of this cohort, characterizing population structure and patterns of…

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Topics

Keywords

1000 Genomes Project
Biology
Imputation (statistics)
Indel
Genome
Computational biology
Population
Genomics

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