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Predicting regulatory variants with composite statistic
Author(s) -
Mulin Jun Li,
Zhicheng Pan,
Zipeng Liu,
Jiexing Wu,
Panwen Wang,
Yun Zhu,
Feng Xu,
Zhengyuan Xia,
Pak C. Sham,
JeanPierre Kocher,
Miaoxin Li,
Jun S. Liu,
Junwen Wang
Publication year - 2016
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btw288
Subject(s) - computer science , statistic , annotation , prioritization , machine learning , coding (social sciences) , data mining , computational biology , artificial intelligence , biology , statistics , mathematics , management science , economics
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.

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