Whole-exome Sequencing (WES) is a major approach to uncovering gene-disease associations and pinpointing effector genes. We developed MAGICpipeline, a convenient and open-access analysis pipeline, to estimate the genetic associations of rare and common variants in large-scale case-control WES studies. Gene-based rare variants association analyses were assessed by incorporating multiple variant pathogenic annotations and statistical methods. The protocol also used Weighted Correlation Network Analysis (WGCNA), a systems biology method, to identify disease-related modules and hub genes.
We also provide a step-by-step tutorial for you to walk through the MAGICpipeline.
If you use our pipeline in your projects, please cite Yuan J, Li K, Peng H, et al. Protocol for detecting rare and common genetic associations in whole-exome sequencing studies using MAGICpipeline[J]. STAR Protocols, 2024, 5(1): 102806.. If you have any questions, please reach out via kaili22225@gmail.com and yuanjian0415@gmail.com.