Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Abstract excerpt

Emerging evidence implicates common genetic variation - aggregated into polygenic scores (PGS) - in the onset and phenotypic presentation of rare diseases. Here, we comprehensively map individual polygenic liability for 1102 open-source PGS in a cohort of 3059 probands enrolled in the Genomic Answers for Kids (GA4K) rare disease study, revealing widespread associations between rare disease phenotypes and PGSs for...

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• Child
• Cohort Studies
• Genetic Predisposition to Disease
• Genetic Variation
• Genome-Wide Association Study