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- Title
Identification of genomic regions distorting population structure inference in diverse continental groups.
- Authors
Qiuxuan Liu; Degang Wu; Chaolong Wang
- Abstract
Background: Inference of population structure is crucial for studies of human evolutionary history and genome-wide association studies. While several genomic regions have been reported to distort population structure analysis of European populations, no systematic analysis has been performed on non-European continental groups and with the latest human genome assembly. Methods: Using the 1000 Genomes Project high coverage whole-genome sequencing data from four major continental groups (Europe, East Asia, South Asia, and Africa), we developed a statistical framework and systematically detected genomic regions with unusual contributions to the inference of population structure for each of the continental groups. Results: We identified and characterized 27 unusual genomic regions mapped to GRCh38, including 13 regions around centromeres, 2 with chromosomal inversions, 8 under natural selection, and 4 with unknown causes. Excluding these regions would result in a more interpretable population structure inferred by principal components analysis and ADMIXTURE analysis. Conclusions: Unusual genomic patterns in certain regions can distort the inference of population structure. Our compiled list of these unusual regions will be useful for many population-genetic studies, including those from non-European populations.
- Subjects
GENOMICS; POPULATION genetics; BALANCE disorders; NATURAL selection; CONSERVATION genetics
- Publication
Quantitative Biology, 2022, Vol 10, Issue 3, p287
- ISSN
2095-4689
- Publication type
Article
- DOI
10.15302/J-QB-022-0303