Article
Optimal population-specific HLA imputation with dimension reduction.
HLA - 1 Jan 2024
Douillard Venceslas, Dos Santos Brito Silva Nayane, Bourguiba-Hachemi Sonia, Naslavsky Michel S, Scliar Marilia O, Duarte Yeda A O, Zatz Mayana, Passos-Bueno Maria Rita, Limou Sophie, Gourraud Pierre-Antoine, Launay Élise, Castelli Erick C, Vince Nicolas
Abstract excerpt
Human genomics has quickly evolved, powering genome-wide association studies (GWASs). SNP-based GWASs cannot capture the intense polymorphism of HLA genes, highly associated with disease susceptibility. There are methods to statistically impute HLA genotypes from SNP-genotypes data, but lack of diversity in reference panels hinders their performance. We evaluated the accuracy of the 1000 Genomes data as a...
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