Evidence map›Paper›PMID 39293804›Full record

ReviewBriefings in bioinformatics2024

Designing interpretable deep learning applications for functional genomics: a quantitative analysis.

Arno van Hilten, Sonja Katz, Edoardo Saccenti, Wiro J Niessen, Gennady V Roshchupkin

Abstract readReview
In one paragraph

Review in Briefings in bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

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

  1. Pooled it
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  14. Computational Metagenomics: State of the Art.International journal of molecular sciences · 2025
    Review
  15. Can classical statistics and deep learning converge on explainable, causally driven target discovery?DNA research : an international journal for rapid publication of reports on genes and genomes · 2025
    Review
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  17. 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

5 authors.

Arno van HiltenDepartment of Radiology and Nuclear Medicine, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Sonja KatzDepartment of Radiology and Nuclear Medicine, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Edoardo SaccentiLaboratory of Systems and Synthetic Biology, Wageningen University & Research, 6700 HB Wageningen WE, The Netherlands.
Wiro J NiessenDepartment of Imaging Physics, Delft University of Technology, 2628 CD Delft, The Netherlands.
Gennady V RoshchupkinDepartment of Radiology and Nuclear Medicine, Erasmus MC, 3015 GD Rotterdam, The Netherlands.

Funding

European Union's Horizon 2020 860895Netherlands Organisation for Health Research and Development 456008002ZonMw Veni 1936320
6 · The paper itself

Abstract

Deep learning applications have had a profound impact on many scientific fields, including functional genomics. Deep learning models can learn complex interactions between and within omics data; however, interpreting and explaining these models can be challenging. Interpretability is essential not only to help progress our understanding of the biological mechanisms underlying traits and diseases but also for establishing trust in these model's efficacy for healthcare applications. Recognizing this importance, recent years have seen the development of numerous diverse interpretability strategies, making it increasingly difficult to navigate the field. In this review, we present a quantitative analysis of the challenges arising when designing interpretable deep learning solutions in functional genomics. We explore design choices related to the characteristics of genomics data, the neural network architectures applied, and strategies for interpretation. By quantifying the current state of the field with a predefined set of criteria, we find the most frequent solutions, highlight exceptional examples, and identify unexplored opportunities for developing interpretable deep learning models in genomics.

Indexed as

Deep LearningGenomicsComputational BiologyHumansNeural Networks, Computerdeep learningexplainablegenomicsinterpretableomicsvisible

Identifiers

PMID39293804
PMCPMC11410376

What OpenQuestion holds

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LicenceCC BY-NC
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.