Article
Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.
PLoS computational biology - 1 Jan 2022
Xu Zhi Ming, Rüeger Sina, Zwyer Michaela, Brites Daniela, Hiza Hellen, Reinhard Miriam, Rutaihwa Liliana, Borrell Sonia, Isihaka Faima, Temba Hosiana, Maroa Thomas, Naftari Rastard, Hella Jerry, Sasamalo Mohamed, Reither Klaus, Portevin Damien, Gagneux Sebastien, Fellay Jacques
Abstract excerpt
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...
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