Evidence map›Paper›PMID 26950747›Full record

ArticleNature methods2016

Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases.

Daniel Marbach, David Lamparter, Gerald Quon, Manolis Kellis, Zoltán Kutalik, Sven Bergmann

Abstract read
In one paragraph

Article in Nature methods, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers.

0numbers the graph read from it
0cells of the map it votes in
185citing 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

185 citing papers in PubMed.

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125 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

6 authors.

Daniel MarbachDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.
David LamparterDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Gerald QuonBroad Institute, MIT, Cambridge, Massachusetts, USA.
Manolis KellisBroad Institute, MIT, Cambridge, Massachusetts, USA.
Zoltán KutalikSwiss Institute of Bioinformatics, Lausanne, Switzerland.ORCID http://orcid.org/0000-0001-8285-7523
Sven BergmannDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.

Funding

Regulatory Morif Discovery in the Human Genome Using Comparative GenomicsR01HG004037 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2007 to 2015
$3.9M
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
NHGRI NIH HHS R01 HG004037NHGRI NIH HHS R01 HG008155NIGMS NIH HHS R01 GM113708NIMH NIH HHS R01 MH109978
6 · The paper itself

Abstract

Mapping perturbed molecular circuits that underlie complex diseases remains a great challenge. We developed a comprehensive resource of 394 cell type- and tissue-specific gene regulatory networks for human, each specifying the genome-wide connectivity among transcription factors, enhancers, promoters and genes. Integration with 37 genome-wide association studies (GWASs) showed that disease-associated genetic variants--including variants that do not reach genome-wide significance--often perturb regulatory modules that are highly specific to disease-relevant cell types or tissues. Our resource opens the door to systematic analysis of regulatory programs across hundreds of human cell types and tissues (http://regulatorycircuits.org).

Indexed as

EpigenomicsGene Regulatory NetworksBrain DiseasesCell LineageComputational BiologyGenetic VariationGenome, HumanGenome-Wide Association StudyHumansOrgan SpecificityPromoter Regions, GeneticProtein Interaction MappingTranscription FactorsTranscription Factors

Identifiers

PMID26950747
PMCPMC4967716

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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.