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

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

Abstract 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 Genom...

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Bibliographic Details
Main Authors: Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S. A. Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen
Format: Article
Language:English
Published: Nature Portfolio 2024-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-52407-1

Internet

https://doi.org/10.1038/s41467-024-52407-1

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