Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.
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ABSTRACT:
SUBMITTER: Xu ZM
PROVIDER: S-EPMC8791479 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Publications
Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.
Xu Zhi Ming ZM Rüeger Sina S Zwyer Michaela M Brites Daniela D Hiza Hellen H Reinhard Miriam M Rutaihwa Liliana L Borrell Sonia S Isihaka Faima F Temba Hosiana H Maroa Thomas T Naftari Rastard R Hella Jerry J Sasamalo Mohamed M Reither Klaus K Portevin Damien D Gagneux Sebastien S Fellay Jacques J
PLoS computational biology 20220113 1
Genome-wide association studies rely on the statistical inference of untyped variants, called imputation, to increase the coverage of genotyping arrays. However, the results are often suboptimal in populations underrepresented in existing reference panels and array designs, since the selected single nucleotide polymorphisms (SNPs) may fail to capture population-specific haplotype structures, hence the full extent of common genetic variation. Here, we propose to sequence the full genomes of a sma ...[more]
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