Evidence map›Paper›PMID 37672022›Full record

ArticleBioinformatics (Oxford, England)2023

Automated machine learning for genome wide association studies.

Kleanthi Lakiotaki, Zaharias Papadovasilakis, Vincenzo Lagani, Stefanos Fafalios, Paulos Charonyktakis, Michail Tsagris, Ioannis Tsamardinos

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

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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

7 authors.

Kleanthi LakiotakiDepartment of Computer Science, University of Crete, Heraklion, Greece.ORCID 0000-0003-0442-2211
Zaharias PapadovasilakisDepartment of Computer Science, University of Crete, Heraklion, Greece.
Vincenzo LaganiBiological and Environmental Sciences and Engineering Division (BESE), King Abdullah University of Science and Technology KAUST, Thuwal 23952, Saudi Arabia.
Stefanos FafaliosDepartment of Computer Science, University of Crete, Heraklion, Greece.
Paulos CharonyktakisJADBio Gnosis DA S.A., Science and Technology Park of Crete, GR-70013 Heraklion, Greece.
Michail TsagrisDepartment of Computer Science, University of Crete, Heraklion, Greece.
Ioannis TsamardinosDepartment of Computer Science, University of Crete, Heraklion, Greece.

Funding

European Research CouncilWellcome TrustWellcome Trust 076113
6 · The paper itself

Abstract

motivationGenome-wide association studies (GWAS) present several computational and statistical challenges for their data analysis, including knowledge discovery, interpretability, and translation to clinical practice.

resultsWe develop, apply, and comparatively evaluate an automated machine learning (AutoML) approach, customized for genomic data that delivers reliable predictive and diagnostic models, the set of genetic variants that are important for predictions (called a biosignature), and an estimate of the out-of-sample predictive power. This AutoML approach discovers variants with higher predictive performance compared to standard GWAS methods, computes an individual risk prediction score, generalizes to new, unseen data, is shown to better differentiate causal variants from other highly correlated variants, and enhances knowledge discovery and interpretability by reporting multiple equivalent biosignatures. AVAILABILITY AND IMPLEMENTATION: Code for this study is available at: https://github.com/mensxmachina/autoML-GWAS. JADBio offers a free version at: https://jadbio.com/sign-up/. SNP data can be downloaded from the EGA repository (https://ega-archive.org/). PRS data are found at: https://www.aicrowd.com/challenges/opensnp-height-prediction. Simulation data to study population structure can be found at: https://easygwas.ethz.ch/data/public/dataset/view/1/.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideComputer SimulationHumansMachine LearningPhenotype

Identifiers

PMID37672022
PMCPMC10562960

What OpenQuestion holds

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Registered trials

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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.