Evidence map›Paper›PMID 40822924›Full record

ArticleInternational journal of information technology : an official journal of Bharati Vidyapeeth's Institute of Computer Applications and Management2024

Harnessing deep learning for SNP-based disease prediction in genomics.

Colten Alme, Harun Pirim, M Mishkatur Rahman

Abstract read
In one paragraph

Article in International journal of information technology : an official journal of Bharati Vidyapeeth's Institute of Computer Applications and Management, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Colten AlmeNorth Dakota State University, Fargo, ND, USA.
Harun PirimNorth Dakota State University, Fargo, ND, USA.ORCID 0000-0001-5273-5955
M Mishkatur RahmanNorth Dakota State University, Fargo, ND, USA.

Funding

Research CoresP20GM103442 · NIGMS · UNIVERSITY OF NORTH DAKOTA · PI Donald A. Sens · 2012 to 2026
$53.0M
NIGMS NIH HHS P20 GM103442
6 · The paper itself

Abstract

This study investigates the use of deep learning models to predict disease status from single nucleotide polymorphism (SNP) data. Eight GEO datasets were processed using a consistent pipeline involving genotype encoding, data cleaning, and multiple feature selection strategies. A variety of DL architectures-including feedforward networks, autoencoders, CNNs, and RNNs-were trained and evaluated. The novelty of this work lies in the standardized preprocessing, feature selection, and model training pipeline applied across all datasets, allowing for a direct and fair comparison of model performance. Results consistently showed that feedforward networks and autoencoders performed best across most datasets. This work offers a practical approach to applying deep learning in genomics with potential for future extensions.

Indexed as

BioinformaticsDeep learningFeature selectionGenomicsSNP

Identifiers

PMID40822924
PMCPMC12356146

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.