ReMM score

The <strong>Re</strong>gulatory <strong>M</strong>endelian <strong>M</strong>utation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19) in terms of Mendelian diseases. <strong>Usage</strong> The ReMM score is genome position wise (nucleotide changes are neglected). We precomputed all positions in the human genome (hg19 release) and stored the values in a tabix file (1-based). The scores ranging from 0 (non-deleterious) to 1 (deleterious). If you want to use the ReMM score together with the Genomiser, please have a look at the Exomiser framework manual <strong>ReMM score changelog</strong> 0.3: First official public version. Values for positions in training data are computed by cytoband-aware 10 fold cross-validation. Other position scores are compted by a generalized model of all training data. This version was used in the Genomiser publication (Smeley et.al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. AHJG. 2016)