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Article

Predicting regulatory variants with composite statistic.

Bioinformatics (Oxford, England) - 15 Sept 2016

Li Mulin Jun, Pan Zhicheng, Liu Zipeng, Wu Jiexing, Wang Panwen, Zhu Yun, Xu Feng, Xia Zhengyuan, Sham Pak Chung, Kocher Jean-Pierre A, Li Miaoxin, Liu Jun S, Wang Junwen

Abstract excerpt

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...

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PMID: 27273672
DOI: 10.1093/bioinformatics/btw288
PMCID: PMC6280872

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