Evidence map›Paper›PMID 36371468›Full record

ArticleCommunications biology2022

Gene-gene interaction detection with deep learning.

Tianyu Cui, Khaoula El Mekkaoui, Jaakko Reinvall, Aki S Havulinna, Pekka Marttinen, Samuel Kaski

Abstract read
In one paragraph

Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

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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.

Tianyu CuiDepartment of Computer Science, Aalto University, Espoo, Finland. tianyu.cui@aalto.fi.ORCID 0000-0003-2392-0689
Khaoula El MekkaouiDepartment of Computer Science, Aalto University, Espoo, Finland.
Jaakko ReinvallDepartment of Computer Science, Aalto University, Espoo, Finland.
Aki S HavulinnaFinnish Institute for Health and Welfare (THL), Helsinki, Finland.ORCID 0000-0002-4787-8959
Pekka Marttinen *Department of Computer Science, Aalto University, Espoo, Finland.ORCID 0000-0001-7078-7927
Samuel Kaski *Department of Computer Science, Aalto University, Espoo, Finland.

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

The extent to which genetic interactions affect observed phenotypes is generally unknown because current interaction detection approaches only consider simple interactions between top SNPs of genes. We introduce an open-source framework for increasing the power of interaction detection by considering all SNPs within a selected set of genes and complex interactions between them, beyond only the currently considered multiplicative relationships. In brief, the relation between SNPs and a phenotype is captured by a neural network, and the interactions are quantified by Shapley scores between hidden nodes, which are gene representations that optimally combine information from the corresponding SNPs. Additionally, we design a permutation procedure tailored for neural networks to assess the significance of interactions, which outperformed existing alternatives on simulated datasets with complex interactions, and in a cholesterol study on the UK Biobank it detected nine interactions which replicated on an independent FINRISK dataset.

Indexed as

Deep LearningEpistasis, GeneticNeural Networks, ComputerPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID36371468
PMCPMC9653457

What OpenQuestion holds

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Registered trials

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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.