Evidence map›Paper›PMID 35523803›Full record

ArticleScientific reports2022

Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data.

Sara A Yones, Alva Annett, Patricia Stoll, Klev Diamanti, Linda Holmfeldt, Carl Fredrik Barrenäs, Jennifer R S Meadows, Jan Komorowski

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

9 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Autophagy and machine learning: Unanswered questions.Biochimica et biophysica acta. Molecular basis of disease · 2024
    Review
  5. Review
  6. What is circulating factor disease and how is it currently explained?Pediatric nephrology (Berlin, Germany) · 2023
    Review
  7. Article
  8. Article
  9. Application of Machine Learning Models in Systemic Lupus Erythematosus.International journal of molecular sciences · 2023
    Review
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

8 authors at 3 institutions in 4 countries.

Sara A YonesScience for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden. sara.younes@icm.uu.se.ORCID 0000-0002-7201-2604
Alva AnnettScience for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Patricia StollDepartment of Biosystems Science and Engineering, ETH Zurich, Zurich, Switzerland.
Klev DiamantiScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-4922-8415
Linda HolmfeldtScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0003-4140-3423
Carl Fredrik BarrenäsScience for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Jennifer R S Meadows *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-0850-230X
Jan Komorowski *Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden. jan.komorowski@icm.uu.se.ORCID 0000-0002-0766-8789
Uppsala University · SEETH Zurich · CHOregon National Primate Research Center · US

Funding

NIH HHS HHSN272201700010I
6 · The paper itself

Abstract

Transcriptomic analyses are commonly used to identify differentially expressed genes between patients and controls, or within individuals across disease courses. These methods, whilst effective, cannot encompass the combinatorial effects of genes driving disease. We applied rule-based machine learning (RBML) models and rule networks (RN) to an existing paediatric Systemic Lupus Erythematosus (SLE) blood expression dataset, with the goal of developing gene networks to separate low and high disease activity (DA1 and DA3). The resultant model had an 81% accuracy to distinguish between DA1 and DA3, with unsupervised hierarchical clustering revealing additional subgroups indicative of the immune axis involved or state of disease flare. These subgroups correlated with clinical variables, suggesting that the gene sets identified may further the understanding of gene networks that act in concert to drive disease progression. This included roles for genes (i) induced by interferons (IFI35 and OTOF), (ii) key to SLE cell types (KLRB1 encoding CD161), or (iii) with roles in autophagy and NF-κB pathway responses (CKAP4). As demonstrated here, RBML approaches have the potential to reveal novel gene patterns from within a heterogeneous disease, facilitating patient clinical and therapeutic stratification.

Indexed as

Gene Expression ProfilingLupus Erythematosus, SystemicChildGene ExpressionGene Regulatory NetworksHumansMachine Learning

Identifiers

PMID35523803
PMCPMC9076598
OpenAlexW4229067716

What OpenQuestion holds

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LicenceCC BY
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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.