Evidence map›Paper›PMID 38769069›Full record

ArticleNucleic acids research2024

REEV: review, evaluate and explain variants.

Dzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, Oliver Stolpe, Mikko Nieminen, Ronja Adam, Magdalena Danyel, Lara Einicke, René Hägerling, Alexej Knaus and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026
    Review
  2. Article
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

18 authors.

Dzmitry HramykaBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.
Henrike Lisa SczakielInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Max Xiaohang ZhaoBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.
Oliver StolpeBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.
Mikko NieminenBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.ORCID 0000-0002-4180-8810
Ronja AdamInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Magdalena DanyelInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Lara EinickeInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
René HägerlingInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-6830-2043
Alexej KnausInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany.
Stefan MundlosInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Sarina SchwartzmannInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Dominik SeelowInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-9746-4412
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Martin Atta MensahInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Felix BoschannInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Dieter BeuleBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.
Manuel HoltgreweBerlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.ORCID 0000-0002-3051-1763

Funding

Alliance4RareBerlin Institute of HealthBIHCharité-Universitätsmedizin BerlinCharite University Medicine LibraryGerman national omics data infrastructure NFDI-GHGA 441914366Prof. Duska Dragun
6 · The paper itself

Abstract

In the era of high throughput sequencing, special software is required for the clinical evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform for clinicians and researchers in the field of rare disease genetics. Supporting data was aggregated from public data sources. We compared REEV with seven other tools for clinical variant evaluation. REEV (semi-)automatically fills individual ACMG criteria facilitating variant interpretation. REEV can store disease and phenotype data related to a case to use these for phenotype similarity measures. Users can create public permanent links for individual variants that can be saved as browser bookmarks and shared. REEV may help in the fast diagnostic assessment of genetic variants in a clinical as well as in a research context. REEV (https://reev.bihealth.org/) is free and open to all users and there is no login requirement.

Indexed as

Genetic VariationSoftwareDatabases, GeneticHigh-Throughput Nucleotide SequencingHumansPhenotypeRare Diseases

Identifiers

PMID38769069
PMCPMC11223839

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.