Published in

Frontiers Media, Frontiers in Bioinformatics, (3), 2023

DOI: 10.3389/fbinf.2023.1161167

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

Journal article published in 2023 by Wen-Hua Wei, Hui Guo ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Postprint: archiving allowed
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Published version: archiving allowed
Data provided by SHERPA/RoMEO

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 roles. We further showed an LRP4 exemplar region with PSI elements orchestrated with common and rare disease variants and other functional elements. Our results render PSI elements as a valuable source to inform genetic studies of complex diseases.