Cited by 960Bioinformatics and Genomic NetworksGene expression and cancer classificationArtificial Intelligence in Healthcare

The DOI matches its Crossref record; 359 of the 363 references it cites were found in a registry or an index, and 1 are not checked yet; none of the 164 sources its claims cite is checked for support yet.

Using machine learning approaches for multi-omics data analysis: A review

Open access

Abstract

With the development of modern high-throughput omic measurement platforms, it has become essential for biomedical studies to undertake an integrative (combined) approach to fully utilise these data to gain insights into biological systems. Data from various omics sources such as genetics, proteomics, and metabolomics can be integrated to unravel the intricate working of systems biology using machine learning-based predictive algorithms. Machine learning methods offer novel techniques to integrate and analyse the various omics data enabling the discovery of new biomarkers. These biomarkers have the potential to help in accurate disease prediction, patient stratification and delivering of precision medicine. This review paper explores different integrative machine learning methods which have been used to provide an in-depth understanding of biological systems during normal physiological functioning and in the presence of a disease. It provides insight and recommendations for interdisciplinary professionals who envisage employing machine learning skills in multi-omics studies.

Checked 2026-10-09 · 1 reference not checked yet

Overview

AI snapshot

Written from the paper’s full text.

TL;DR

This review surveys machine learning approaches for integrating multi-omics data, organizing methods into concatenation-, model-, and transformation-based strategies for supervised and unsupervised learning. It provides background, application examples, challenges, and a recommendation flowchart for interdisciplinary method selection.

Key findings

  • Multi-omics integration methods are grouped into three main classes: concatenation-based, model-based, and transformation-based, each with distinct advantages and disadvantages for combining omics data.
  • The review reports that most multi-omics studies focus on cancer, especially breast and ovarian cancer, and that integration can improve understanding of disease complexity beyond single-omics analysis.
  • It cites examples including an ADNI study using neuroimaging, biochemical, and genetic biomarkers to discriminate early Alzheimer’s patients from healthy volunteers with 98% accuracy, and notes class imbalance examples such as primary hypertension at 95% prevalence versus endocrine hypertension at 5%.
  • A recommendation flowchart is proposed to help interdisciplinary teams choose an appropriate integration method, but the paper states that no “one-size-fits-all” approach is feasible.

Methods

  • Narrative review of supervised and unsupervised ML strategies for multi-omics integration, explicitly excluding reinforcement, hybrid, multi-view, and self-supervised learning because they have not gained enough momentum in multi-omics analysis.
  • Summarizes integration methods, published multi-omics studies, ML terminology, algorithms, and advantages/disadvantages in tables, and presents a recommendation flowchart.
  • No primary dataset or experimental analysis is reported; the paper synthesizes existing literature and examples.

Limitations

  • The authors state that existing literature does not provide many direct comparisons between methods using the same publicly available datasets, and that empirical investigation guided by ML practitioners is recommended.
  • The review’s scope excludes several emerging ML specializations, including reinforcement, hybrid, multi-view, and self-supervised learning.
  • Evident from the text: this is a narrative review without a systematic search protocol or quantitative synthesis, and the provided version is a journal pre-proof with production artifacts.

Model-written summary. Check it against the paper before relying on it.

Integrity signals

Registry

Crossref · 10.1016/j.biotechadv.2021.107739

Cites

359 of 360 references verified0 citation errors · 0 not checkable

Statistics

Nothing to recompute.

Verification

Claims the paper makes

0 of 164 cited sources checked · 0 supported · 0 flagged

Show all 65 claims

  • Probably not a substantial claim. 56
  • It may state two separate claims as one. 41
  • The quote only partly states this claim. 1
83 of 83

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

Each contradiction between two passages listed here was confirmed by an independent check.

  • Concatenation is described as both needing and not needing preprocessing

    Minor

    Section 4.1 says concatenation-based integration commonly requires no preprocessing, but Table 6 says it needs proper normalisation before concatenation.

  • Model-based workflow assigns individual models to different stages

    Minor

    The workflow says individual omics models are developed in Stage 2 and integrated in Stage 3, but the later description places the individual omics models in Stage 3.

  • mRNA is classified as a microRNA despite being defined as messenger RNA

    Minor

    The paper expands mRNA as messenger RNA, but later places it within "microRNAs (mRNA and miRNA)."

3 of 3

Citations

Cites

Items 201–360 of 360

Flagged first, then by citations

3 of the 363 references couldn’t be matched to a known paper.

Research works printed but not linked: 3

  1. Clarivate Analytics, 2020, Web of science [v.5.35] - web of science core collection basic search [WWW Document], Web Sci.
  2. Tipping, 2001, Sparse bayesian learning and the relevance vector machine, J. Mach. Learn. Res., 1, 211
  3. Wang, 2020, MORONET: multi-omics integration via graph convolutional networks for biomedical data classification, bioRxiv

Cited by

Sorted by citations

See all 960

Metadata

Authors
Reel, P. S., Reel, S., Pearson, E., Trucco, E., & Jefferson, E.
Affiliations
University of Dundee (GB)
Corresponding author
Jefferson, Emily
Venue
Biotechnology Advances
Publisher
Elsevier BV
Published
2021-07
Volume
49
Pages
107739
ISSN
0734-9750 (ISSN-L)
OpenAlex
W3139601120
Cited by
903
References
363
Citations by year
2026: 186 · 2025: 239 · 2024: 227 · 2023: 148 · 2022: 89 · 2021: 14
FWCI
13.04
Type
journal article
Language
en
Open access
Locations
  • Biotechnology Advances (publishedVersion)
  • PubMed (publishedVersion)
  • Discovery Research Portal (University of Dundee) (publishedVersion, cc-by-nc-nd)
Funders
  • Horizon 2020
  • University of Dundee (16/136/102)
  • Horizon 2020 Framework Programme (633983)
  • National Institute for Health Research
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
  • Health Sciences › Health Professions › Health Information Management › Artificial Intelligence in Healthcare
Keywords
multi-omics integration, machine learning, biomarker discovery, disease prediction, patient stratification, precision medicine, systems biology, genomics, proteomics, metabolomics, predictive algorithms
MeSH terms
Machine Learning, Algorithms, Humans, Proteomics, Systems Biology, Metabolomics

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

A language model drew the claims from the paper on 2026-10-09, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).

A second model labelled each claim on 2026-10-09 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review