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

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

Abstract read

In one paragraph

Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Solenne CorreardDepartment of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

Brittany HewitsonDepartment of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

Robin van der LeeDepartment of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.ORCID 0000-0001-7391-9438

Wyeth W WassermanDepartment of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.ORCID 0000-0001-6098-6412

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

summaryTo 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 regulatory variants, based on the 24 criteria, with a hybrid approach combining information retrieved from public databases and user input. AVAILABILITY AND IMPLEMENTATION: RevUP is freely available at http://www.revup-classifier.ca. The source code is available at https://github.com/wassermanlab/revup. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Rare DiseasesSoftwareDatabases, FactualData ManagementHumansPhenotype

Identifiers

PMID35289834

DOI10.1093/bioinformatics/btac157

PMCPMC9048665

What OpenQuestion holds

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LicenceCC BY

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Registered trials

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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.