Evidence map›Paper›PMID 30858411›Full record

ArticleScientific reports2019

Interpretable genotype-to-phenotype classifiers with performance guarantees.

Alexandre Drouin, Gaël Letarte, Frédéric Raymond, Mario Marchand, Jacques Corbeil, François Laviolette

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 3 pooled it
5.7field-weighted citation impact, top 3% 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

61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 105 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. bioRxiv : the preprint server for biology · 2026
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  13. Prediction of antimicrobial resistance inMicrobiology spectrum · 2025
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1 more citing papers are in PubMed but not listed here.

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

6 authors at 1 institution in 1 country.

Alexandre DrouinDepartment of Computer Science and Software Engineering, Université Laval, Quebec, Canada. alexandre.drouin.8@ulaval.ca.ORCID 0000-0001-7718-0319
Gaël LetarteDepartment of Computer Science and Software Engineering, Université Laval, Quebec, Canada.
Frédéric RaymondSchool of Nutrition, Université Laval, Quebec, Canada.ORCID 0000-0002-3606-4060
Mario MarchandDepartment of Computer Science and Software Engineering, Université Laval, Quebec, Canada.
Jacques CorbeilBig Data Research Centre, Université Laval, Quebec, Canada.ORCID 0000-0002-9973-2740
François LavioletteDepartment of Computer Science and Software Engineering, Université Laval, Quebec, Canada.
Université Laval · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Understanding the relationship between the genome of a cell and its phenotype is a central problem in precision medicine. Nonetheless, genotype-to-phenotype prediction comes with great challenges for machine learning algorithms that limit their use in this setting. The high dimensionality of the data tends to hinder generalization and challenges the scalability of most learning algorithms. Additionally, most algorithms produce models that are complex and difficult to interpret. We alleviate these limitations by proposing strong performance guarantees, based on sample compression theory, for rule-based learning algorithms that produce highly interpretable models. We show that these guarantees can be leveraged to accelerate learning and improve model interpretability. Our approach is validated through an application to the genomic prediction of antimicrobial resistance, an important public health concern. Highly accurate models were obtained for 12 species and 56 antibiotics, and their interpretation revealed known resistance mechanisms, as well as some potentially new ones. An open-source disk-based implementation that is both memory and computationally efficient is provided with this work. The implementation is turnkey, requires no prior knowledge of machine learning, and is complemented by comprehensive tutorials.

Indexed as

Genetic Association StudiesMachine LearningPrecision MedicineAlgorithmsArtificial IntelligenceGenomeGenomicsHumansSoftware

Identifiers

PMID30858411
PMCPMC6411721
OpenAlexW2887711510

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.