作者
Mulin Jun Li, Zhicheng Pan, Zipeng Liu, Jiexing Wu, Panwen Wang, Yun Zhu, Feng Xu, Zhengyuan Xia, Pak Chung Sham, Jean-Pierre A Kocher, Miaoxin Li, Jun S Liu, Junwen Wang
发表日期
2016/9/15
期刊
Bioinformatics
卷号
32
期号
18
页码范围
2729-2736
出版商
Oxford University Press
简介
Motivation: Prediction and prioritization of human non-coding regulatory variants is critical for understanding the regulatory mechanisms of disease pathogenesis and promoting personalized medicine. Existing tools utilize functional genomics data and evolutionary information to evaluate the pathogenicity or regulatory functions of non-coding variants. However, different algorithms lead to inconsistent and even conflicting predictions. Combining multiple methods may increase accuracy in regulatory variant prediction.
Results: Here, we compiled an integrative resource for predictions from eight different tools on functional annotation of non-coding variants. We further developed a composite strategy to integrate multiple predictions and computed the composite likelihood of a given variant being regulatory variant. Benchmarked by multiple independent causal variants datasets, we demonstrated …
引用总数
201720182019202020212022202320249966672
学术搜索中的文章
MJ Li, Z Pan, Z Liu, J Wu, P Wang, Y Zhu, F Xu, Z Xia… - Bioinformatics, 2016