Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

RevUP: an online scoring system for regulatory variants implicated in rare diseases.

Bioinformatics (Oxford, England) - 28 Apr 2022

Correard Solenne, Hewitson Brittany, van der Lee Robin, Wasserman Wyeth W

Abstract excerpt

SUMMARY: To address the difficulty in assessing the implication of regulatory variants in diseases, a scoring scheme previously published allows the calculation of the Regulatory Variant Evidence score (RVE-score). The score represents the accumulated evidence for a causative role of a regulatory variant in a disease. Regulatory Evidence for Variants Underlying Phenotypes was built to calculate the RVE-score of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Databases, Factual
Share to Phenotype
Share to Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 35289834
DOI: 10.1093/bioinformatics/btac157
PMCID: PMC9048665

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RevUP: an online scoring system for regulatory variants implicated in rare diseases.PMID 35289834Read ↗

Prediction of functional regulatory SNPs in monogenic and complex disease.Semantic proximity Read ↗

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.Semantic proximity Read ↗

ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation.Semantic proximity Read ↗

Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.Semantic proximity Read ↗

A survey of genomic properties for the detection of regulatory polymorphisms.Semantic proximity Read ↗

rSNPBase: a database for curated regulatory SNPs.Semantic proximity Read ↗

Predicting regulatory variants with composite statistic.Semantic proximity Read ↗

The Regulatory Mendelian Mutation score for GRCh38Semantic proximity Read ↗

Classification of non-coding variants with high pathogenic impact.Semantic proximity Read ↗

Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression.Semantic proximity Read ↗

Predicting functional regulatory polymorphisms.Semantic proximity Read ↗

REVA as A Well-curated Database for Human Expression-modulating Variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.