Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications.

ABSTRACT:

Objective

Type 1 diabetes polygenic risk scores (PRS) offer a promising tool for identifying diabetes subtypes in adults with new-onset disease. We aimed to develop a pipeline for the clinical translation of type 1 diabetes PRS to support clinical decision-making within a large health system and to provide publicly available code for applying these methods to future PRS models.

Research design and methods

We adapted two established type 1 diabetes PRS models: a 67-SNP (GRS2) and a 7-SNP (AA7) score for a clinical genotyping platform and applied them to 73,346 participants in the biobank at the Colorado Center for Personalized Medicine (CCPM). We evaluated the scores' performance differentiating between type 1 and type 2 diabetes in adults using a clinician-curated diabetes p

SUBMITTER: Brasher MS 

PROVIDER: S-EPMC12338922 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature