The Regulatory Mendelian Mutation (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.

Usage

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. The scores ranging from 0 (non-deleterious) to 1 (deleterious).

If you want to use teh ReMM score together with the Genomiser, please have a look at the Exomiser framework manual

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Version 0.3.1:

Version 0.3:

Citation

If you you the ReMM Score please cite the following:

Damian Smedley,  Max Schubach,  Julius OB Jacobsen,  Sebastian Köhler,  Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry, Melissa A Haendel, Christopher J Mungall, Suzanna E Lewis, Tudor Groza, Giorgio Valentini, Peter N Robinson. (2016). 
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. 
The American Journal of Human Genetics, 99(3), 595–606. http://doi.org/10.1016/j.ajhg.2016.07.005
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