Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Identifying associations of rare variants with disease is challenging due to small effect sizes, technical artefacts and population structure heterogeneity. Here, the authors present RV-EXCALIBER, a method that uses large summary-level exome data to robustly calibrate rare variant burden.

Bibliographic Details
Main Authors: Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Paré
Format: Article
Language:English
Published: Nature Publishing Group 2021-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-26114-0

Internet

https://doi.org/10.1038/s41467-021-26114-0

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