Leveraging primate-specific genomic information for genetic studies of complex diseases.

ABSTRACT: Genomic changes specific to higher primates are regarded as primate-specific genomic information (PSI). Using PSI to inform genetic studies is highly desirable but hampered by three factors: heterogeneity among PSI studies, lack of integrated profiles of the identified PSI elements and dearth of relevant functional information. We report a database of 19,767 PSI elements collated from nine types of brain-related studies, which form 19,473 non-overlapping PSI regions that distribute unevenly but jointly cover only 0.81% of the genome. About 2.5% of the PSI regions colocalized with variants identified in genome-wide association studies, with disease loci more likely colocalized than quantitative trait loci (p = 1.6 × 10^-5), particularly in regions without obvious regulatory

SUBMITTER: Wei WH 

PROVIDER: S-EPMC10086602 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature