The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.

ABSTRACT:

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.

Methods

We evaluated the T

SUBMITTER: Huerta-Chagoya A 

PROVIDER: S-EPMC10244266 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature