Evidence map›Paper›PMID 33228685›Full record

ArticleBMC medical genomics2020

Identification of contributing genes of Huntington's disease by machine learning.

Jack Cheng, Hsin-Ping Liu, Wei-Yong Lin, Fuu-Jen Tsai

Open access · goldAbstract read
In one paragraph

Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 16% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
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  3. Article
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  10. Article
  11. Non-Cell Autonomous and Epigenetic Mechanisms of Huntington's Disease.International journal of molecular sciences · 2021
    Review
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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.

Jack ChengGraduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan.ORCID 0000-0002-9305-0781
Hsin-Ping LiuGraduate Institute of Acupuncture Science, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan.ORCID 0000-0002-2569-3072
Wei-Yong LinGraduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan. linwy@mail.cmu.edu.tw.ORCID 0000-0002-8443-6180
Fuu-Jen TsaiDepartment of Medical Research, China Medical University Hospital, Taichung, 40447, Taiwan. d0704@mail.cmuh.org.tw.
China Medical University · TWAsia University · TW

Funding

China Medical University Hospital DMR-106-119China Medical University Hospital DMR-109-150China Medical University, Taiwan CMU107-S-08China Medical University, Taiwan CMU108-MF-68China Medical University, Taiwan CMU109-MF-85Ministry of Science and Technology, Taiwan MOST108-2320-B-039-031-MY3Ministry of Science and Technology, Taiwan MOST 109-2314-B-039-030
6 · The paper itself

Abstract

backgroundHuntington's disease (HD) is an inherited disorder caused by the polyglutamine (poly-Q) mutations of the HTT gene results in neurodegeneration characterized by chorea, loss of coordination, cognitive decline. However, HD pathogenesis is still elusive. Despite the availability of a wide range of biological data, a comprehensive understanding of HD's mechanism from machine learning is so far unrealized, majorly due to the lack of needed data density.

methodsTo harness the knowledge of the HD pathogenesis from the expression profiles of postmortem prefrontal cortex samples of 157 HD and 157 controls, we used gene profiling ranking as the criteria to reduce the dimension to the order of magnitude of the sample size, followed by machine learning using the decision tree, rule induction, random forest, and generalized linear model.

resultsThese four Machine learning models identified 66 potential HD-contributing genes, with the cross-validated accuracy of 90.79 ± 4.57%, 89.49 ± 5.20%, 90.45 ± 4.24%, and 97.46 ± 3.26%, respectively. The identified genes enriched the gene ontology of transcriptional regulation, inflammatory response, neuron projection, and the cytoskeleton. Moreover, three genes in the cognitive, sensory, and perceptual systems were also identified.

conclusionsThe mutant HTT may interfere with both the expression and transport of these identified genes to promote the HD pathogenesis.

Indexed as

Gene Expression ProfilingMachine LearningCognitionCytoskeletonDatasets as TopicDecision TreesGene Expression RegulationGene OntologyHumansHuntington DiseaseInflammationLinear ModelsNerve Tissue ProteinsPerceptionPrefrontal CortexSensationNerve Tissue ProteinsEnrichment analysisHuntington’s diseaseMachine learningTranscriptional regulation

Identifiers

PMID33228685
PMCPMC7684976
OpenAlexW3109633643

What OpenQuestion holds

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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.