Evidence map›Paper›PMID 38113073›Full record

ReviewBriefings in bioinformatics2023

Explainable artificial intelligence for omics data: a systematic mapping study.

Philipp A Toussaint, Florian Leiser, Scott Thiebes, Matthias Schlesner, Benedikt Brors, Ali Sunyaev

Abstract readReview
In one paragraph

Review in Briefings in bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing 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

42 citing papers in PubMed.

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  19. Leveraging AI for cell biology discovery.Biochemical Society transactions · 2026
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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.

Philipp A ToussaintDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.
Florian LeiserDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.
Scott ThiebesDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.
Matthias SchlesnerBiomedical Informatics, Data Mining and Data Analytics, Faculty of Applied Computer Science and Medical Faculty, University of Augsburg, Augsburg, Germany.
Benedikt BrorsDivision of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ali SunyaevDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.

Funding

Helmholtz Information and Data Science School for HealthKarlsruhe Institute of Technology
6 · The paper itself

Abstract

Researchers increasingly turn to explainable artificial intelligence (XAI) to analyze omics data and gain insights into the underlying biological processes. Yet, given the interdisciplinary nature of the field, many findings have only been shared in their respective research community. An overview of XAI for omics data is needed to highlight promising approaches and help detect common issues. Toward this end, we conducted a systematic mapping study. To identify relevant literature, we queried Scopus, PubMed, Web of Science, BioRxiv, MedRxiv and arXiv. Based on keywording, we developed a coding scheme with 10 facets regarding the studies' AI methods, explainability methods and omics data. Our mapping study resulted in 405 included papers published between 2010 and 2023. The inspected papers analyze DNA-based (mostly genomic), transcriptomic, proteomic or metabolomic data by means of neural networks, tree-based methods, statistical methods and further AI methods. The preferred post-hoc explainability methods are feature relevance (n = 166) and visual explanation (n = 52), while papers using interpretable approaches often resort to the use of transparent models (n = 83) or architecture modifications (n = 72). With many research gaps still apparent for XAI for omics data, we deduced eight research directions and discuss their potential for the field. We also provide exemplary research questions for each direction. Many problems with the adoption of XAI for omics data in clinical practice are yet to be resolved. This systematic mapping study outlines extant research on the topic and provides research directions for researchers and practitioners.

Indexed as

Artificial IntelligenceProteomicsGene Expression ProfilingGenomicsNeural Networks, Computerbiomedical dataexplainable artificial intelligenceinterpretable artificial intelligencemachine learningomicssystematic mapping study

Identifiers

PMID38113073
PMCPMC10729786

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.