Deleterious Variants Contribute Minimal Excess Risk in Large-Scale Testing
Yen‐Tsung Huang, En‐Yu Lai, Jia-Ying Su, Hsueh-Ju Lu, Yen‐Lin Chen, Jer-Yuarn Wu, Chunyu Wei, Ling‐Hui Li, Cathy S.J. Fann, Hsin‐Chou Yang, Chien-Hsiun Chen, Hung‐Hsin Chen, Yi-Min Liu, Ming-Fang Tsai, Erh‐Chan Yeh, , Chang‐Hsun Hsieh
The paper analyzes 292 disease-relevant deleterious variants in 486,956 participants to assess their risk differences, finding most have minimal impact.
medRxiv · Oct 21, 2024 · PreprintGenetic & Genomic Medicine