Evidence map›Paper›PMID 39318760›Full record

ReviewFrontiers in bioinformatics2024

A review of model evaluation metrics for machine learning in genetics and genomics.

Catriona Miller, Theo Portlock, Denis M Nyaga, Justin M O'Sullivan

Abstract readReview
In one paragraph

Review in Frontiers in bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
–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

37 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Artificial intelligence in rehabilitation: a living systematic mapping review - first release.European journal of physical and rehabilitation medicine · 2025
    Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Multi-Architecture Deep Learning for Early Alzheimer's Detection in MRI: Slice- and Scan-Level Analysis.International journal of environmental research and public health · 2026
    Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Review
  20. Classifying Diabetic and HealthyComputational and structural biotechnology journal · 2026
    Article
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.

Catriona MillerThe Liggins Institute, The University of Auckland, Auckland, New Zealand.
Theo PortlockThe Liggins Institute, The University of Auckland, Auckland, New Zealand.
Denis M NyagaThe Liggins Institute, The University of Auckland, Auckland, New Zealand.
Justin M O'SullivanThe Liggins Institute, The University of Auckland, Auckland, New Zealand.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Machine learning (ML) has shown great promise in genetics and genomics where large and complex datasets have the potential to provide insight into many aspects of disease risk, pathogenesis of genetic disorders, and prediction of health and wellbeing. However, with this possibility there is a responsibility to exercise caution against biases and inflation of results that can have harmful unintended impacts. Therefore, researchers must understand the metrics used to evaluate ML models which can influence the critical interpretation of results. In this review we provide an overview of ML metrics for clustering, classification, and regression and highlight the advantages and disadvantages of each. We also detail common pitfalls that occur during model evaluation. Finally, we provide examples of how researchers can assess and utilise the results of ML models, specifically from a genomics perspective.

Indexed as

classificationclusteringdisease predictiongenomics predictionmachine learningmetricsregression

Identifiers

PMID39318760
PMCPMC11420621

What OpenQuestion holds

Textmetadata
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.