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January 13, 2015Bioinformatics759 citationsOpen Access

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

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HSHashem A. ShihabMRMark F. RogersJGJulian Gough

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Abstract

We show that our method outperforms current state-of-the-art algorithms, CADD and GWAVA, when predicting the functional consequences of non-coding variants. In addition, FATHMM-MKL is comparable to the best of these algorithms when predicting the impact of coding variants. The method includes a confidence measure to rank order predictions.

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Shihab et al. (2015) studied this question.

synapsesocial.com/papers/69d78fcd1f14cb2b27b8a3c4https://doi.org/10.1093/bioinformatics/btv009
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