Evidence map›Paper›PMID 34535759›Full record

ArticleCommunications biology2021

GenNet framework: interpretable deep learning for predicting phenotypes from genetic data.

Arno van Hilten, Steven A Kushner, Manfred Kayser, M Arfan Ikram, Hieab H H Adams, Caroline C W Klaver, Wiro J Niessen, Gennady V Roshchupkin

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
14.0field-weighted citation impact, top 1% 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

59 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

Arno van HiltenDepartment of Radiology and Nuclear Medicine, Erasmus MC, Medical Center, Rotterdam, the Netherlands. a.vanhilten@erasmusmc.nl.ORCID http://orcid.org/0000-0003-2630-8217
Steven A KushnerDepartment of Psychiatry, Erasmus MC, Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-9777-3338
Manfred KayserDepartment of Genetic Identification, Erasmus MC, Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-4958-847X
M Arfan IkramDepartment of Epidemiology, Erasmus MC, Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
Hieab H H AdamsDepartment of Radiology and Nuclear Medicine, Erasmus MC, Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-3687-2508
Caroline C W KlaverDepartment of Epidemiology, Erasmus MC, Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-2355-5258
Wiro J NiessenDepartment of Radiology and Nuclear Medicine, Erasmus MC, Medical Center, Rotterdam, the Netherlands.
Gennady V RoshchupkinDepartment of Radiology and Nuclear Medicine, Erasmus MC, Medical Center, Rotterdam, the Netherlands. g.roshchupkin@erasmusmc.nl.ORCID http://orcid.org/0000-0002-3403-2313
Erasmus MC · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Applying deep learning in population genomics is challenging because of computational issues and lack of interpretable models. Here, we propose GenNet, a novel open-source deep learning framework for predicting phenotypes from genetic variants. In this framework, interpretable and memory-efficient neural network architectures are constructed by embedding biologically knowledge from public databases, resulting in neural networks that contain only biologically plausible connections. We applied the framework to seventeen phenotypes and found well-replicated genes such as HERC2 and OCA2 for hair and eye color, and novel genes such as ZNF773 and PCNT for schizophrenia. Additionally, the framework identified ubiquitin mediated proteolysis, endocrine system and viral infectious diseases as most predictive biological pathways for schizophrenia. GenNet is a freely available, end-to-end deep learning framework that allows researchers to develop and use interpretable neural networks to obtain novel insights into the genetic architecture of complex traits and diseases.

Indexed as

Deep LearningNeural Networks, ComputerPhenotypeHumans

Identifiers

PMID34535759
PMCPMC8448759
OpenAlexW3199585733

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.