Evidence map›Paper›PMID 35415203›Full record

ArticleAlzheimer's & dementia (Amsterdam, Netherlands)2022

Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease.

Magdalena Arnal Segura, Giorgio Bini, Dietmar Fernandez Orth, Eleftherios Samaras, Maya Kassis, Fotis Aisopos, Jordi Rambla De Argila, George Paliouras, Peter Garrard, Claudia Giambartolomei and 1 more

Open access · goldAbstract read
In one paragraph

Article in Alzheimer's & dementia (Amsterdam, Netherlands), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.7field-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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Genetic risk in Alzheimer's disease.NPJ systems biology and applications · 2026
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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

11 authors at 5 institutions in 5 countries.

Magdalena Arnal SeguraDepartment of Biology "Charles Darwin" Sapienza University of Rome Rome Italy.ORCID https://orcid.org/0000-0001-8647-9232
Giorgio BiniCentre for Human Technologies Istituto Italiano di Tecnologia (IIT) Genova Italy.
Dietmar Fernandez OrthCentre for Genomic Regulation (CRG) The Barcelona Institute for Science and Technology Barcelona Spain.
Eleftherios SamarasStroke and Dementia Research Centre St George's, University of London London UK.
Maya KassisStroke and Dementia Research Centre St George's, University of London London UK.
Fotis AisoposInstitute of Informatics and Telecommunications NCSR Demokritos Athens Greece.
Jordi Rambla De ArgilaCentre for Genomic Regulation (CRG) The Barcelona Institute for Science and Technology Barcelona Spain.
George PaliourasInstitute of Informatics and Telecommunications NCSR Demokritos Athens Greece.
Peter GarrardStroke and Dementia Research Centre St George's, University of London London UK.
Claudia GiambartolomeiCentre for Human Technologies Istituto Italiano di Tecnologia (IIT) Genova Italy.
Gian Gaetano TartagliaDepartment of Biology "Charles Darwin" Sapienza University of Rome Rome Italy.
Italian Institute of Technology · ITSt George's, University of London · GBBarcelona Institute of Science and Technology · ESNational Centre of Scientific Research "Demokritos" · GRInstitució Catalana de Recerca i Estudis Avançats · ES

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Introduction: Genome-wide association studies (GWAS) in late onset Alzheimer's disease (LOAD) provide lists of individual genetic determinants. However, GWAS do not capture the synergistic effects among multiple genetic variants and lack good specificity. Methods: We applied tree-based machine learning algorithms (MLs) to discriminate LOAD (>700 individuals) and age-matched unaffected subjects in UK Biobank with single nucleotide variants (SNVs) from Alzheimer's disease (AD) studies, obtaining specific genomic profiles with the prioritized SNVs. Results: MLs prioritized a set of SNVs located in genes Discussion: Our approach efficiently discriminates LOAD from controls, capturing genomic profiles defined by interactions among SNVs in a hot-spot region.

Indexed as

Apolipoprotein Egenetic determinantsgenomic interactionsgenomic profileslate onset Alzheimer's diseasemachine learningsingle nucleotide variantsvariant prioritization

Identifiers

PMID35415203
PMCPMC8984091
OpenAlexW4225961941

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.