Evidence map›Paper›PMID 32575372›Full record

ArticleGenes2020

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.

Daniel M Bean, Ammar Al-Chalabi, Richard J B Dobson, Alfredo Iacoangeli

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 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 15% 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

13 citing papers in PubMed, 30 citations in OpenAlex.

  1. A neuromuscular clinician's primer on machine learning.Journal of neuromuscular diseases · 2026
    Review
  2. Antlers on does: An unexpected role of macrophages in deer biology.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
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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 at 2 institutions in 1 country.

Daniel M BeanDepartment of Biostatistics & Health Informatics, King's College London, 16 De Crespigny Park, London SE5 8AF, UK.
Ammar Al-ChalabiKing's College Hospital, Bessemer Road, Denmark Hill, Brixton, London SE5 9RS, UK.ORCID 0000-0002-4924-7712
Richard J B DobsonDepartment of Biostatistics & Health Informatics, King's College London, 16 De Crespigny Park, London SE5 8AF, UK.
Alfredo IacoangeliDepartment of Biostatistics & Health Informatics, King's College London, 16 De Crespigny Park, London SE5 8AF, UK.ORCID 0000-0002-5280-5017
King's College London · GBUniversity of London · GB

Funding

British Heart FoundationChief Scientist OfficeDepartment of HealthMedical Research Council MC_PC_17214Medical Research Council MR/L501529/1Medical Research Council MR/L501529/1 and MR/R024804/1Medical Research Council MR/R024804/1Medical Research Council MR/S00310X/1Motor Neurone Disease Association AL-CHALABI/APR15/844-791Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Wellcome Trust
6 · The paper itself

Abstract

Amyotrophic lateral sclerosis is a neurodegenerative disease of the upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two to five years of first symptoms. Several rare disruptive gene variants have been associated with ALS and are responsible for about 15% of all cases. Although our knowledge of the genetic landscape of this disease is improving, it remains limited. Machine learning models trained on the available protein-protein interaction and phenotype-genotype association data can use our current knowledge of the disease genetics for the prediction of novel candidate genes. Here, we describe a knowledge-based machine learning method for this purpose. We trained our model on protein-protein interaction data from IntAct, gene function annotation from Gene Ontology, and known disease-gene associations from DisGeNet. Using several sets of known ALS genes from public databases and a manual review as input, we generated a list of new candidate genes for each input set. We investigated the relevance of the predicted genes in ALS by using the available summary statistics from the largest ALS genome-wide association study and by performing functional and phenotype enrichment analysis. The predicted sets were enriched for genes associated with other neurodegenerative diseases known to overlap with ALS genetically and phenotypically, as well as for biological processes associated with the disease. Moreover, using ALS genes from ClinVar and our manual review as input, the predicted sets were enriched for ALS-associated genes (ClinVar

Indexed as

Knowledge BasesMachine LearningAmyotrophic Lateral SclerosisGenetic Association StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMotor NeuronsNeurodegenerative DiseasesPhenotypeamyotrophic lateral sclerosisgene discoverygene prioritisationknowledge graphmachine learningmotor neurone disease

Identifiers

PMID32575372
PMCPMC7349022
OpenAlexW3036097568

What Socratic 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 Socratic graph.