The Regulatory Mendelian Mutation score for GRCh38

ABSTRACT Motivation Various 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 methods and annotations are not available for the current human genome build (GRCh38), for which the adoption in databases, software and pipelines was slow. Results 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. Availability and Implementation Pre-scored whole genome files of GRCh37 and GRCh38 genome builds are available on Zenodo https://doi.org/10.5281/zenodo.6576087 . The website and API are available at https://remm.bihealth.org .