Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases
Lin Jiang, Hui Jiang, Sheng Dai, Ying Chen, You‐Qiang Song, Clara Sze-Man Tang, Shirley Yin-Yu Pang, Shu‐Leong Ho, Binbin Wang, Maria-Mercedes Garcia-Barcelo, Paul Kwong Hang Tam, Stacey Shawn Cherny, Mulin Jun Li, Pak Chung Sham, Miaoxin Li
This paper introduces a new statistical method, RUNNER, to detect rare variants associated with complex diseases by comparing observed mutation burdens to predicted baseline values, showing improved power over existing methods.
Nucleic Acids Research · Dec 4, 2021Peer-reviewedGenetics