Evidence map›Paper›PMID 32244891›Full record

ArticleBiomolecules2020

Consistency of the Tools That Predict the Impact of Single Nucleotide Variants (SNVs) on Gene Functionality: The

Javier Murillo, Flavio Spetale, Serge Guillaume, Pilar Bulacio, Ignacio Garcia Labari, Olivier Cailloux, Sebastien Destercke, Elizabeth Tapia

Open access · goldAbstract read
In one paragraph

Article in Biomolecules, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 98% of its field
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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

8 authors at 4 institutions in 2 countries.

Javier MurilloCentro Internacional Franco Argentino de Ciencias de la Información y de Sistemas (CIFASIS-CONICET), Universidad Nacional de Rosario, CP 2000 Rosario, Santa Fe, Argentina.
Flavio SpetaleCentro Internacional Franco Argentino de Ciencias de la Información y de Sistemas (CIFASIS-CONICET), Universidad Nacional de Rosario, CP 2000 Rosario, Santa Fe, Argentina.ORCID 0000-0002-0226-8372
Serge GuillaumeITAP, Univ Montpellier, INRAE, Montpellier SupAgro, Montpellier, France.ORCID 0000-0002-3546-5276
Pilar BulacioCentro Internacional Franco Argentino de Ciencias de la Información y de Sistemas (CIFASIS-CONICET), Universidad Nacional de Rosario, CP 2000 Rosario, Santa Fe, Argentina.
Ignacio Garcia LabariCentro Internacional Franco Argentino de Ciencias de la Información y de Sistemas (CIFASIS-CONICET), Universidad Nacional de Rosario, CP 2000 Rosario, Santa Fe, Argentina.
Olivier CaillouxUniversité Paris-Dauphine, Université PSL, CNRS, LAMSADE, 75016 Paris, France.
Sebastien DesterckeUniversité de Technologie de Compiegne, 60200 Compiegne, France.
Elizabeth TapiaCentro Internacional Franco Argentino de Ciencias de la Información y de Sistemas (CIFASIS-CONICET), Universidad Nacional de Rosario, CP 2000 Rosario, Santa Fe, Argentina.
Consejo Nacional de Investigaciones Científicas y Técnicas · ARCentre National de la Recherche Scientifique · FRUniversité de Montpellier · FRUniversité de Technologie de Compiègne · FR

Funding

STICamSud 17STIC-07 - SNPs-PHE
6 · The paper itself

Abstract

Single nucleotide variants (SNVs) occurring in a protein coding gene may disrupt its function in multiple ways. Predicting this disruption has been recognized as an important problem in bioinformatics research. Many tools, hereafter p-tools, have been designed to perform these predictions and many of them are now of common use in scientific research, even in clinical applications. This highlights the importance of understanding the semantics of their outputs. To shed light on this issue, two questions are formulated, (i) do p-tools provide similar predictions? (inner consistency), and (ii) are these predictions consistent with the literature? (outer consistency). To answer these, six p-tools are evaluated with exhaustive SNV datasets from the

Indexed as

BRCA1 ProteinComputational BiologyModels, GeneticPolymorphism, Single NucleotideHumansBRCA1 ProteinBRCA1 protein, humanBRCA1 geneconsistency of toolsprediction toolspreference relationsSNV

Identifiers

PMID32244891
PMCPMC7175253
OpenAlexW3011511722

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.