Additional file 5: of NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans
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Table S4. Validation set including a “positive” set of 70 SNVs in non-coding regions of protein-coding genes newly reported in recent updates of the HGMD and ClinVar databases, and a “negative” set of 700 randomly sampled common human variants, matched per type of region to the “positive” set. (XLSX 36 kb)
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Yufei Luo
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2019-02-12
