Supporting data for "The Regulatory Mendelian Mutation score for GRCh38"

Genome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the non-coding genome and the clinical need for methods that prioritize potentially disease causal non-coding variants. Some tools for assessment of variant pathogenicity as well as annotations are not available for the current human genome build (GRCh38), for which the adoption in databases, software and pipelines was slow.
Here, we present an updated version of the Regulatory Mendelian Mutation (ReMM) score, re-trained on features and variants derived from the GRCh38 genome build. Like its GRCh37 version, it achieves good performance on its highly imbalanced data. To improve accessibility and provide users with a toolbox to score their variant files and lookup scores in the genome, we developed a website and API for easy score lookup.
Scores of the GRCh38 genome build are highly correlated to the prior release with a performance increase due to the better coverage of features. For prioritization of non-coding mutations in imbalanced datasets, the ReMM score performed much better than other variation scores. Pre-scored whole genome files of GRCh37 and GRCh38 genome builds are available on Zenodo. The website, UCSC genome browser tracks, and an API are available at https://remm.bihealth.org.