Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches.

ABSTRACT: A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in clinical and research studies. We investigated the concordance between WGS-based and array-based T1DGRS across genetic ancestries in 149,265 UK Biobank participants using WGS, TOPMed-imputed, and 1000 Genomes-imputed array genotypes. In the overall cohort, WGS-based T1DGRS demonstrated strong correlation with TOPMed-imputed array-based score (r = 0.996, average WGS-based score 0.0028 standard deviations (SD) lower, p < 10^- 31), while showing lower correlation with 1000 Genomes-imputed array-based scores (r = 0.981, 0.043 SD lower

SUBMITTER: Arni AM 

PROVIDER: S-EPMC11680773 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature