Evidence map›Paper›PMID 31672653›Full record

ArticleMethods (San Diego, Calif.)2021

Decoding regulatory structures and features from epigenomics profiles: A Roadmap-ENCODE Variational Auto-Encoder (RE-VAE) model.

Ruifeng Hu, Guangsheng Pei, Peilin Jia, Zhongming Zhao

Abstract read
In one paragraph

Article in Methods (San Diego, Calif.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Machine Learning in Epigenomics: Insights into Cancer Biology and Medicine.Biochimica et biophysica acta. Reviews on cancer · 2021
    Review
  5. Article
  6. Article
  7. Article
  8. 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

4 authors.

Ruifeng HuCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Guangsheng PeiCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Peilin JiaCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: peilin.jia@uth.tmc.edu.
Zhongming ZhaoCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37203, USA. Electronic address: zhongming.zhao@uth.tmc.edu.

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
Transcriptional and Post-transcriptional Co-regulation in Lip DevelopmentR03DE027393 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI, ZHAO, ZHONGMING · 2018 to 2019
$308k
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
Mining Genomic Data in FaceBase for Cleft GenesR03DE028103 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ZHAO, ZHONGMING · 2018 to 2019
$308k
NIDCR NIH HHS R03 DE027393NIDCR NIH HHS R03 DE027711NIDCR NIH HHS R03 DE028103NLM NIH HHS R01 LM012806
6 · The paper itself

Abstract

The development of chromatin immunoprecipitation (ChIP) with massively parallel DNA sequencing (ChIP-seq) technologies has promoted generation of large-scale epigenomics data, providing us unprecedented opportunities to explore the landscape of epigenomic profiles at scales across both histone marks and tissue types. In addition to many tools directly for data analysis, advanced computational approaches, such as deep learning, have recently become promising to deeply mine the data structures and identify important regulators from complex functional genomics data. We implemented a neural network framework, a Variational Auto-Encoder (VAE) model, to explore the epigenomic data from the Roadmap Epigenomics Project and the Encyclopedia of DNA Elements (ENCODE) project. Our model is applied to 935 reference samples, covering 28 tissues and 12 histone marks. We used the enhancer and promoter regions as the annotation features and ChIP-seq signal values in these regions as the feature values. Through a parameter sweep process, we identified the suitable hyperparameter values and built a VAE model to represent the epigenomics data and to further explore the biological regulation. The resultant Roadmap-ENCODE VAE (RE-VAE) model contained data compression and feature representation. Using the compressed data in the latent space, we found that the majority of histone marks were well clustered but not for tissues or cell types. Tissue or cell specificity was observed only in some histone marks (e.g., H3K4me3 and H3K27ac) and could be characterized when the number of tissue samples is large (e.g., blood and brain). In blood, the contributive regions and genes identified by RE-VAE model were confirmed by tissue-specificity enrichment analysis with an independent tissue expression panel. Finally, we demonstrated that RE-VAE model could detect cancer cell lines with similar epigenomics profiles. In conclusion, we introduced and implemented a VAE model to represent large-scale epigenomics data. The model could be used to explore classifications of histone modifications and tissue/cell specificity and to classify new data with unknown sources.

Indexed as

Gene Regulatory NetworksHistone CodeModels, GeneticChromatin Immunoprecipitation SequencingEpigenomicsHumansOrgan SpecificityRegulatory Sequences, Nucleic AcidEpigenomicHistone markRoadmap EpigenomicsTissue specificityVariational Auto-Encoder

Identifiers

PMID31672653
PMCPMC7431277

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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.