Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
oleh: Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Paré
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2021-10-01 |
Deskripsi
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.