Whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants
Shijie Zhang, Yukun He, Huanhuan Liu, Haoyu Zhai, Dandan Huang, Xianfu Yi, Xiaobao Dong, Zhao Wang, Ke Zhao, Yao Zhou, Jianhua Wang, Hongcheng Yao, Hang Xu, Zhenglu Yang, Pak Chung Sham, , Mulin Jun Li
This paper develops regBase, a database of whole genome base-wise aggregations of regulatory variant predictions, and three composite models to score functional, pathogenic, and cancer driver variants, showing superior performance in fine-mapping causal variants.
Nucleic Acids Research · Aug 29, 2019Peer-reviewedGenomics