The Regulatory Mendelian Mutation score for GRCh38
Nazaretyan, L.; Kircher, M.; Schubach, M.
Show abstract
MotivationVarious 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. ResultsHere, 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 ImplementationPre-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.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- A Complete Pedigree-Based Graph Workflow for Rare Candidate Variant Analysis 96%
- Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall 96%
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads 96%
Similar papers in this journal
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.