Evidence map›Paper›PMID 30923642›Full record

ArticleNature biomedical engineering2019

Combinatorial interactions of genetic variants in human cardiomyopathy.

Dekker C Deacon, Cassandra L Happe, Chao Chen, Neil Tedeschi, Ana Maria Manso, Ting Li, Nancy D Dalton, Qian Peng, Elie N Farah, Yusu Gu and 9 more

Open access · greenAbstract read
In one paragraph

Article in Nature biomedical engineering, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
5.2field-weighted citation impact, top 4% 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

34 citing papers in PubMed, 47 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Case reports in genetics · 2024
    Article
  9. Article
  10. Article
  11. Article
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  14. Article
  15. Review
  16. Article
  17. Prospective Advances in Genome Editing Investigation.Advances in experimental medicine and biology · 2023
    Article
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 4 institutions in 1 country.

Dekker C Deacon *Division of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Cassandra L Happe *Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA.
Chao Chen *Division of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Neil TedeschiDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Ana Maria MansoDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Ting LiDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Nancy D DaltonDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Qian PengDepartment of Neuroscience, The Scripps Research Institute, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-2662-3412
Elie N FarahDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Yusu GuDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Kevin P TenerelliDepartment of Bioengineering, University of California, San Diego, La Jolla, CA, USA.
Vivien D TranDepartment of Bioengineering, University of California, San Diego, La Jolla, CA, USA.
Ju ChenDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Kirk L PetersonDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Nicholas J SchorkDepartment of Human Biology, J. Craig Venter Institute, La Jolla, CA, USA.
Eric D AdlerDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Adam J EnglerDepartment of Bioengineering, University of California, San Diego, La Jolla, CA, USA. aengler@ucsd.edu.ORCID http://orcid.org/0000-0003-1642-5380
Robert S RossDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA. rross@ucsd.edu.ORCID http://orcid.org/0000-0003-2195-8982
Neil C ChiDivision of Cardiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA. nchi@ucsd.edu.ORCID http://orcid.org/0000-0003-2324-3796
University of California San Diego · USUnited States Department of Veterans Affairs · USJ. Craig Venter Institute · USScripps Research Institute · US

Funding

Administrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics ConsortiaU01HL131003 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI CNOTA, JAMES, OLLBERDING, NICHOLAS J · 2016 to 2024
$54.8M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007198 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHI, NEIL C, INSEL, PAUL A · 1985 to 2024
$29.3M
Training In Cardiovascular Physiology & PharmacologyT32HL007444 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Ju Chen, Robert Scott Ross · 1985 to 2026
$11.1M
Training Program in Basic Clinical GeneticsT32GM008666 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HAMILTON, BRUCE A · 1998 to 2021
$8.6M
Developmental Regulatory Genomics of Human Cardiovascular LineagesUM1HL128773 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHI, NEIL C, EVANS, SYLVIA M · 2015 to 2019
$3.8M
Mechanogenetics: An Integrated Approach to Aging in Muscle DysfunctionR01AG045428 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ENGLER, ADAM J · 2013 to 2022
$3.4M
The Cardiac Role of Filamin CR01HL144872 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHEN, JU · 2019 to 2022
$1.6M
ALPK3 in cardiac function and diseaseR01HL146759 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHEN, JU · 2019 to 2022
$1.6M
The role of Nexilin in cardiomyocyte and cardiomyopathyR01HL137957 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHEN, JU · 2017 to 2020
$1.6M
BAG3 in Cardiac function and diseaseR01HL130295 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHEN, JU · 2016 to 2019
$1.6M
Cardiac Myocyte Form and Function: Role of Talin and KindlinR01HL127806 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ROSS, ROBERT SCOTT · 2015 to 2018
$1.6M
Big data analytics for the evaluation of whole genome sequence and transcriptome data in alcohol researchK25AA025095 · NIAAA · SCRIPPS RESEARCH INSTITUTE, THE · PI PENG, QIAN · 2016 to 2020
$807k
BLRD VA I01 BX003260NHLBI NIH HHS F32 HL131424NHLBI NIH HHS R01 HL127806NHLBI NIH HHS R01 HL130295NHLBI NIH HHS R01 HL137957NHLBI NIH HHS R01 HL144872NHLBI NIH HHS R01 HL146759NHLBI NIH HHS T32 HL007444NHLBI NIH HHS U01 HL131003NHLBI NIH HHS UM1 HL128773NIAAA NIH HHS K25 AA025095NIA NIH HHS R01 AG045428NIGMS NIH HHS T32 GM007198NIGMS NIH HHS T32 GM008666
6 · The paper itself

Abstract

Dilated cardiomyopathy (DCM) is a leading cause of morbidity and mortality worldwide; yet how genetic variation and environmental factors impact DCM heritability remains unclear. Here, we report that compound genetic interactions between DNA sequence variants contribute to the complex heritability of DCM. By using genetic data from a large family with a history of DCM, we discovered that heterozygous sequence variants in the

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAnimalsCardiomyopathy, DilatedExtracellular MatrixFemaleGene Expression RegulationHumansInheritance PatternsMaleMiceModels, BiologicalMuscle ContractionMyocytes, CardiacPedigreePluripotent Stem Cells

Identifiers

PMID30923642
PMCPMC6433174
OpenAlexW2912161639

What OpenQuestion 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 OpenQuestion graph.