Evidence map›Paper›PMID 41092272›Full record

ReviewDatabase : the journal of biological databases and curation2025

Review of autism spectrum disorder databases for the identification of candidate genes.

Diana Martínez-Minguet, René Noel, Alberto García S, Mireia Costa, Oscar Pastor

Abstract readReview
In one paragraph

Review in Database : the journal of biological databases and curation, 2025. 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
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. Review
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

5 authors.

Diana Martínez-MinguetPROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera s/n, Valencia 46022, Spain.ORCID 0009-0002-3191-1969
René NoelPROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera s/n, Valencia 46022, Spain.ORCID 0000-0002-3652-4645
Alberto García SPROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera s/n, Valencia 46022, Spain.
Mireia CostaPROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera s/n, Valencia 46022, Spain.ORCID 0000-0002-8614-0914
Oscar PastorPROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera s/n, Valencia 46022, Spain.

Funding

Generalitat Valenciana ACIF/2021/117Generalitat Valenciana ANID/FONDECYT/INICIACION/11251489Generalitat Valenciana CIPROM/2021/023
6 · The paper itself

Abstract

Research into the genetics of autism spectrum disorder (ASD) seeks to unravel its complex genetic background by identifying genes associated with the condition at varying levels of confidence. While these findings hold significant potential for clinical applications, the dispersed nature of scientific evidence presents a challenge for the reliable identification of ASD candidate genes. Although ASD candidate genes are gathered in genetic databases, these vary widely in the gene sets, biological information, and confidence level classification methods, leading to inconsistencies and complicating research efforts. This study aims to identify and assess the quality and reliability of ASD genetic databases to support more robust identification of ASD candidate genes. Using a Systematic Mapping Study, we identified 13 specialized databases. We then followed a Data Quality Approach in two stages, first assessing Accessibility, Currency, and Relevance dimensions to select the potentially relevant databases to be used as ASD candidate gene sources. The selected databases were analysed, assessing Completeness-at schema and data level-, and Consistency between high-confidence ASD genes. The four selected databases are: AutDB, SFARI Gene, GeisingerDBD, and SysNDD. SFARI Gene demonstrated the highest completeness at schema level (89%), while AutDB showed the highest completeness at data level (90%). However, only 1.5% consistency was observed across the four databases in their classification of high-confidence ASD candidate genes. Our findings highlight the unique contributions of each database and reveal substantial inconsistencies in gene classification, driven by differences in scoring criteria and the scientific evidence considered. These inconsistencies have important implications for both clinical users and researchers, as conclusions may vary depending on the database used. This study supports researchers when using ASD genetic databases, promoting consistent interpretation and improved clinical decisions.

Indexed as

Autism Spectrum DisorderDatabases, GeneticGenetic Association StudiesHumans

Identifiers

PMID41092272
PMCPMC12527254

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.