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.

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Autores principales: Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Paré
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Science
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Acceso en línea:https://doaj.org/article/a1bacb5072a44cb987a5aa7ca05c17bd
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