What is the Regulatory Mendelian Mutation score (ReMM score)?

ReMM score is a tool that scores the positions in the human genome in terms of their regulatory probability.

We use curated regulatory variants involved in Mendelian disease and contrast them with proxy-neutral variants that survived natural selection in a machine learning framework. We use an algorithm for highly imbalanced data, called hyperSMURF, to differentiate deleterious from neutral variants.

In the initial publication the ReMM score was introduced alongside the tool Genomiser (Exomiser) in the American Journal of Human Genetics (doi:0.1016/j.ajhg.2016.07.005).

How can I obtain ReMM scores?

We have pre-computed ReMM scores for all positions in the human genome (genome build GRCh37 and GRCh38) and provide an easy to use range lookup for regions in the genome. We further enable the online scoring of new variants with an upload form. Further, all pre-scored files are available for download.