Contextualizing genetic risk score for disease screening and rare variant discovery
oleh: Dan Zhou, Dongmei Yu, Jeremiah M. Scharf, Carol A. Mathews, Lauren McGrath, Edwin Cook, S. Hong Lee, Lea K. Davis, Eric R. Gamazon
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2021-07-01 |
Deskripsi
Genetic studies on complex traits have revealed a substantial role for common, small-effect polygenic burden and large-effect variants. Here, the authors investigate how these types of variation can inform disease risk stratification and prediction.