Article

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

2024-01-11

Abstract excerpt

Emerging evidence implicates common genetic variation – aggregated into polygenic scores (PGS) – impacting the onset and phenotypic presentation of rare diseases. In this study, we quantified individual polygenic liability for 1,151 previously published PGS in a cohort of 2,374 probands enrolled in the Genomic Answers for Kids (GA4K) rare disease study, revealing widespread associations between rare disease phenot...

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Literature Corpus work: 1c067d47-561f-56bb-8b98-48602e98688c
DOI: 10.1101/2024.01.10.24301111

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