ArticleGigaScience2022
The Regulatory Mendelian Mutation score for GRCh38.
Article in GigaScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed.
- SNPnexus: an enhanced web platform for large-scale and multi-sample variant analysis (2025 update).Nucleic acids research · 2026Article
- NCBoost v2: a classifier for non-coding single-nucleotide variants in Mendelian diseases.Bioinformatics (Oxford, England) · 2026Article
- Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.NAR genomics and bioinformatics · 2026Article
- RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.European journal of human genetics : EJHG · 2026Article
- A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.Frontiers in immunology · 2026Article
- A machine-learning framework to characterize functional disease architectures and prioritize disease variants.medRxiv : the preprint server for health sciences · 2025Article
- Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project.Briefings in bioinformatics · 2025Article
- Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.HGG advances · 2025Article
- CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions.Nucleic acids research · 2024Article
- The Regulatory Mendelian Mutation score for GRCh38.GigaScience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the noncoding genome and the clinical need for methods that prioritize potentially disease causal noncoding 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.
resultsHere, we present an updated version of the Regulatory Mendelian Mutation (ReMM) score, retrained 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 look up scores in the genome, we developed a website and API for easy score lookup.
conclusionsScores 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 noncoding mutations in imbalanced datasets, the ReMM score performed much better than other variation scores. Prescored whole-genome files of GRCh37 and GRCh38 genome builds are cited in the article and the website; UCSC genome browser tracks, and an API are available at https://remm.bihealth.org.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.