TY - JOUR T1 - A harmonized public resource of deeply sequenced diverse human genomes JF - bioRxiv DO - 10.1101/2023.01.23.525248 SP - 2023.01.23.525248 AU - Zan Koenig AU - Mary T. Yohannes AU - Lethukuthula L. Nkambule AU - Julia K. Goodrich AU - Heesu Ally Kim AU - Xuefang Zhao AU - Michael W. Wilson AU - Grace Tiao AU - Stephanie P. Hao AU - Nareh Sahakian AU - Katherine R. Chao AU - gnomAD Project Consortium AU - Michael E. Talkowski AU - Mark J. Daly AU - Harrison Brand AU - Konrad J. Karczewski AU - Elizabeth G. Atkinson AU - Alicia R. Martin Y1 - 2023/01/01 UR - http://biorxiv.org/content/early/2023/01/23/2023.01.23.525248.abstract N2 - Underrepresented populations are often excluded from genomic studies due in part to a lack of resources supporting their analysis. 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 4,096 whole genomes from HGDP and 1kGP with data from gnomAD and identified over 155 million high-quality SNVs, indels, and SVs. We performed a detailed ancestry analysis of this cohort, characterizing population structure and patterns of admixture across populations, analyzing site frequency spectra, and measuring variant counts at global and subcontinental levels. We also demonstrate substantial added value from this dataset compared to the prior versions of the component resources, typically combined via liftover and variant intersection; for example, we catalog millions of new genetic variants, mostly rare, compared to previous releases. In addition to unrestricted individual-level public release, we provide detailed tutorials for conducting many of the most common quality control steps and analyses with these data in a scalable cloud-computing environment and publicly release this new phased joint callset for use as a haplotype resource in phasing and imputation pipelines. This jointly called reference panel will serve as a key resource to support research of diverse ancestry populations.Competing Interest StatementThe authors have declared no competing interest. ER -