Evidence map›Paper›PMID 28343628›Full record

ArticleAmerican journal of human genetics2017

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.

Xuanyao Liu, Hilary K Finucane, Alexander Gusev, Gaurav Bhatia, Steven Gazal, Luke O'Connor, Brendan Bulik-Sullivan, Fred A Wright, Patrick F Sullivan, Benjamin M Neale and 1 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 1 pooled it
–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

63 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2019
    Trial
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3 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

11 authors.

Xuanyao LiuDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address: xuliu@hsph.harvard.edu.
Hilary K FinucaneDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Mathematics, Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
Alexander GusevDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Gaurav BhatiaDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Steven GazalDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Luke O'ConnorDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Program in Bioinformatics and Integrative Genomics, Harvard University, Boston, MA 02115, USA.
Brendan Bulik-SullivanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Fred A WrightBioinformatics Research Center, Departments of Statistics and Biological Sciences, North Carolina State University, Raleigh, NC 27695, USA.
Patrick F SullivanDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Psychiatry, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm 17177, Sweden.
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Alkes L PriceDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address: aprice@hsph.harvard.edu.

Funding

Statistical methods to localize disease heritability and identify biological mechanismsR01MH107649 · NIMH · BROAD INSTITUTE, INC. · PI NEALE, BENJAMIN MICHAEL · 2015 to 2018
$2.9M
1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5M
NIMH NIH HHS R01 MH107649NIMH NIH HHS U01 MH109528
6 · The paper itself

Abstract

Genetic variants that modulate gene expression levels play an important role in the etiology of human diseases and complex traits. Although large-scale eQTL mapping studies routinely identify many local eQTLs, the molecular mechanisms by which genetic variants regulate expression remain unclear, particularly for distal eQTLs, which these studies are not well powered to detect. Here, we leveraged all variants (not just those that pass stringent significance thresholds) to analyze the functional architecture of local and distal regulation of gene expression in 15 human tissues by employing an extension of stratified LD-score regression that produces robust results in simulations. The top enriched functional categories in local regulation of peripheral-blood gene expression included coding regions (11.41×), conserved regions (4.67×), and four histone marks (p < 5 × 10

Indexed as

Gene Expression RegulationAnxietyComputer SimulationDepressionHumansLinkage DisequilibriumOrgan SpecificityQuantitative Trait LociRegression AnalysisTwinseQTLsfunctional annotationgene expression regulationheritability

Identifiers

PMID28343628
PMCPMC5384099

What OpenQuestion holds

Textmetadata
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.