Evidence map›Paper›PMID 34048560›Full record

ArticleNucleic acids research2021

DeepFun: a deep learning sequence-based model to decipher non-coding variant effect in a tissue- and cell type-specific manner.

Guangsheng Pei, Ruifeng Hu, Peilin Jia, Zhongming Zhao

Abstract read
In one paragraph

Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing 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

18 citing papers in PubMed.

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  11. m6A-TSHub: Unveiling the Context-specific mGenomics, proteomics & bioinformatics · 2023
    Article
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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

4 authors.

Guangsheng PeiCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.ORCID 0000-0003-1804-7598
Ruifeng HuCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.ORCID 0000-0001-5549-3082
Peilin JiaCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.ORCID 0000-0003-4523-4153
Zhongming ZhaoCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.ORCID 0000-0002-3477-0914

Funding

Transforming dbGaP genetic and genomic data to FAIR-ready by artificial intelligence and machine learning algorithmsR01LM012806 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Zhongming Zhao · 2017 to 2026
$3.7M
Deep learning for decoding genetic regulation and cellular maps in craniofacial developmentR01DE030122 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI, ZHAO, ZHONGMING · 2021 to 2023
$1.7M
Deep learning methods to predict the function of genetic variants in orofacial cleftsR03DE027711 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ZHAO, ZHONGMING · 2018 to 2019
$308k
NIDCR NIH HHS R01 DE030122NIDCR NIH HHS R03 DE027711NLM NIH HHS R01 LM012806
6 · The paper itself

Abstract

More than 90% of the genetic variants identified from genome-wide association studies (GWAS) are located in non-coding regions of the human genome. Here, we present a user-friendly web server, DeepFun (https://bioinfo.uth.edu/deepfun/), to assess the functional activity of non-coding genetic variants. This new server is built on a convolutional neural network (CNN) framework that has been extensively evaluated. Specifically, we collected chromatin profiles from ENCODE and Roadmap projects to construct the feature space, including 1548 DNase I accessibility, 1536 histone mark, and 4795 transcription factor binding profiles covering 225 tissues or cell types. With such comprehensive epigenomics annotations, DeepFun expands the functionality of existing non-coding variant prioritizing tools to provide a more specific functional assessment on non-coding variants in a tissue- and cell type-specific manner. By using the datasets from various GWAS studies, we conducted independent validations and demonstrated the functions of the DeepFun web server in predicting the effect of a non-coding variant in a specific tissue or cell type, as well as visualizing the potential motifs in the region around variants. We expect our server will be widely used in genetics, functional genomics, and disease studies.

Indexed as

Genetic VariationSoftwareChromatinComputer SimulationDeep LearningGenome, HumanGenome-Wide Association StudyHistone CodeHumansMutagenesisOrgan SpecificityTranscription FactorsChromatinTranscription Factors

Identifiers

PMID34048560
PMCPMC8262726

What Socratic 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 Socratic graph.