The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.
Huerta-Chagoya A, Schroeder P, Mandla R et al.
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Abstract
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Aims/hypothesis: The Latino population has been systematically underrepresented in large-scale genetic analyses, and previous studies have relied on the imputation of ungenotyped variants based on the 1000 Genomes (1000G) imputation panel, which results in suboptimal capture of low-frequency or Latino-enriched variants. The National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) released the largest multi-ancestry genotype reference panel representing a unique opportunity to analyse rare genetic variations in the Latino population. We hypothesise that a more comprehensive analysis of low/rare variation using the TOPMed panel would improve our knowledge of the genetics of type 2 diabetes in the Latino population.
8,150 Hispanic or Latin American cases, 10,735 Hispanic or Latin American controls
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