MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.

ABSTRACT: Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of these AI endophenotypes remains largely unexplored in the context of human multiorgan system diseases. Using publicly available genome-wide association study summary statistics from the UK Biobank (UKBB), FinnGen, and the Psychiatric Genomics Consortium, we comprehensively depicted the genetic architecture of 2024 multiorgan AI endophenotypes (MAEs). We comparatively assessed the single-nucleotide polymorphism-based heritability, polygenicity, and natural selection signatures of 2024 MAEs using methods commonly used in the field. Genetic correla

SUBMITTER: Boquet-Pujadas A 

PROVIDER: S-EPMC11938998 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature