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.

Detalles Bibliográficos

Autores principales:	Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Paré
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Nature Portfolio 2021-10-01
Colección:	Nature Communications
Acceso en línea:	https://doi.org/10.1038/s41467-021-26114-0
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!