Evidence map›Paper›PMID 30139913›Full record

ArticleScience (New York, N.Y.)2018

Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci.

Vitor Onuchic, Eugene Lurie, Ivenise Carrero, Piotr Pawliczek, Ronak Y Patel, Joel Rozowsky, Timur Galeev, Zhuoyi Huang, Robert C Altshuler, Zhizhuo Zhang and 9 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed
5.8field-weighted citation impact, top 3% 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

68 citing papers in PubMed, 123 citations in OpenAlex.

  1. Review
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  16. Beyond the "Dominant" and "Recessive" Patterns of Inheritance.International journal of molecular sciences · 2024
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8 more citing papers are in PubMed but not listed here.

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

19 authors at 4 institutions in 2 countries.

Vitor OnuchicMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-3284-8837
Eugene LurieMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-2700-4071
Ivenise CarreroMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-1956-3562
Piotr PawliczekMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.
Ronak Y PatelMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-8111-7363
Joel RozowskyProgram in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0002-3565-0762
Timur GaleevProgram in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0002-6241-1011
Zhuoyi HuangMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-9149-295X
Robert C AltshulerNIH Roadmap Epigenomics Project.
Zhizhuo ZhangComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0000-0003-1202-4037
R Alan HarrisMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.
Cristian CoarfaMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4183-4939
Lillian AshmoreMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4436-598X
Jessica W BertolCenter for Craniofacial Research, Department of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX, USA.
Walid D FakhouriCenter for Craniofacial Research, Department of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX, USA.
Fuli YuMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.
Manolis KellisNIH Roadmap Epigenomics Project.
Mark GersteinProgram in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0002-9746-3719
Aleksandar MilosavljevicMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA. amilosav@bcm.edu.ORCID 0000-0001-5482-2825
Baylor College of Medicine · USBroad Institute · USYale University · USThe University of Texas Health Science Center at Houston · US

Funding

TRAINING PROGRAM IN COMPUTATIONAL BIOLOGY AND MEDICINET15LM007093 · NLM · RICE UNIVERSITY · PI Lydia E. Kavraki · 1992 to 2026
$20.8M
EDAC: ENCODE Data Analysis CenterU24HG009446 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GERSTEIN, MARK BENDER, WENG, ZHIPING · 2017 to 2022
$10.4M
Epigenomics Data Analysis and Coordination Center at Baylor College of MedicineU01DA025956 · NIDA · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., MILOSAVLJEVIC, ALEKSANDAR · 2008 to 2013
$8.9M
PROGRAM IN HUMAN MOLECULAR GENETICST32GM008307 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SHAULSKY, GAD · 1990 to 2020
$6.6M
Powering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1M
Epigenomic variation atlas across human tissues and individuals in GTExU01HG007610 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2014 to 2016
$3.0M
Interpreting non-coding variants using epigenomics, regulatory models, & validation experimentsR01HG008155 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2015 to 2017
$2.3M
Network-based prediction and validation of causal schizophrenia genes and variantsR01MH109978 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI EGGAN, KEVIN C, KELLIS, MANOLIS · 2016 to 2020
$2.1M
Comparative analysis and regulatory architecture of epigenomics datasetsR01GM113708 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2015 to 2017
$852k
Modeling of pathological significance of non-coding DNA variants in cis-overlapping motifs of p53 and cMycR15GM122030 · NIGMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI FAKHOURI, WALID D. · 2016 to 2016
$476k
NHGRI NIH HHS R01 HG008155NHGRI NIH HHS U01 HG007610NHGRI NIH HHS U01 HG009088NHGRI NIH HHS U24 HG009446NIDA NIH HHS U01 DA025956NIGMS NIH HHS R01 GM113708NIGMS NIH HHS R15 GM122030NIGMS NIH HHS T32 GM008307NIMH NIH HHS R01 MH109978NLM NIH HHS T15 LM007093
6 · The paper itself

Abstract

To assess the impact of genetic variation in regulatory loci on human health, we constructed a high-resolution map of allelic imbalances in DNA methylation, histone marks, and gene transcription in 71 epigenomes from 36 distinct cell and tissue types from 13 donors. Deep whole-genome bisulfite sequencing of 49 methylomes revealed sequence-dependent CpG methylation imbalances at thousands of heterozygous regulatory loci. Such loci are enriched for stochastic switching, which is defined as random transitions between fully methylated and unmethylated states of DNA. The methylation imbalances at thousands of loci are explainable by different relative frequencies of the methylated and unmethylated states for the two alleles. Further analyses provided a unifying model that links sequence-dependent allelic imbalances of the epigenome, stochastic switching at gene regulatory loci, and disease-associated genetic variation.

Indexed as

Allelic ImbalanceDNA MethylationEpigenesis, GeneticGenome, HumanPolymorphism, Single NucleotideAllelesBinding SitesCpG IslandsDiseaseGene Regulatory NetworksGenetic LociGenome-Wide Association StudyHumansSequence Analysis, DNASulfitesTranscription Factorshydrogen sulfiteSulfitesTranscription Factors

Identifiers

PMID30139913
PMCPMC6198826
OpenAlexW2888526621

What Socratic holds

Textmetadata
LicenceTDM
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.