ArticleFrontiers in bioinformatics2023
Leveraging primate-specific genomic information for genetic studies of complex diseases.
Article in Frontiers in bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Human-specific insights into candidate genes and boosted discoveries of novel loci illuminate roles of neuroglia in reading disorders.Genes, brain, and behavior · 2024Article
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2 authors.
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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 (
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