Evidence map›Paper›PMID 33316975›Full record

ArticleGenes2020

Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder.

Leonardo Emberti Gialloreti, Roberto Enea, Valentina Di Micco, Daniele Di Giovanni, Paolo Curatolo

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Review
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  5. Article
  6. Article
  7. Diversity and molecular network patterns of symptom phenotypes.NPJ systems biology and applications · 2021
    Article
  8. 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 at 1 institution in 1 country.

Leonardo Emberti GialloretiDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Roberto EneaIMME Research Centre, Via Giotto 43, 81100 Caserta, Italy.
Valentina Di MiccoChild Neurology and Psychiatry Unit, Systems Medicine Department, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.ORCID 0000-0002-9011-7143
Daniele Di GiovanniDepartment of Industrial Engineering, University of Rome Tor Vergata, Via del Politecnico 1, 00133 Rome, Italy.ORCID 0000-0002-6772-2310
Paolo CuratoloChild Neurology and Psychiatry Unit, Systems Medicine Department, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
University of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome sequencing has identified a large number of putative autism spectrum disorder (ASD) risk genes, revealing possible disrupted biological pathways; however, the genetic and environmental underpinnings of ASD remain mostly unanswered. The presented methodology aimed to identify genetically related clusters of ASD individuals. By using the VariCarta dataset, which contains data retrieved from 13,069 people with ASD, we compared patients pairwise to build "patient similarity matrices". Hierarchical-agglomerative-clustering and heatmapping were performed, followed by enrichment analysis (EA). We analyzed whole-genome sequencing retrieved from 2062 individuals, and isolated 11,609 genetic variants shared by at least two people. The analysis yielded three clusters, composed, respectively, by 574 (27.8%), 507 (24.6%), and 650 (31.5%) individuals. Overall, 4187 variants (36.1%) were common to the three clusters. The EA revealed that the biological processes related to the shared genetic variants were mainly involved in neuron projection guidance and morphogenesis, cell junctions, synapse assembly, and in observational, imitative, and vocal learning. The study highlighted genetic networks, which were more frequent in a sample of people with ASD, compared to the overall population. We suggest that itemizing not only single variants, but also gene networks, might support ASD etiopathology research. Future work on larger databases will have to ascertain the reproducibility of this methodology.

Indexed as

Autism Spectrum DisorderCluster AnalysisDatabases, GeneticFemaleGene Regulatory NetworksGenetic Predisposition to DiseaseHumansMaleWhole Genome Sequencingautism spectrum disorder (ASD)cluster analysisconnectivitygene networksneurite morphogenesispatient similarity analyticssynapse assembly

Identifiers

PMID33316975
PMCPMC7763205
OpenAlexW3111895974

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.