Evidence map›Paper›PMID 36129056›Full record

ArticleJournal of the American Heart Association2022

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Qixin Yang, Amy M Berkman, Jordan E Ezekian, Michael Rosamilia, Jill A Rosenfeld, Pengfei Liu, Andrew P Landstrom

Open access · goldAbstract read
In one paragraph

Article in Journal of the American Heart Association, 2022. 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
1.8field-weighted citation impact, top 14% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024
    Review
  7. Identification ofDiagnostics (Basel, Switzerland) · 2023
    Article
  8. Review
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

7 authors at 2 institutions in 2 countries.

Qixin YangDepartment of Pediatrics, Division of Cardiology Duke University School of Medicine Durham NC.
Amy M BerkmanDepartment of Pediatrics, Division of Cardiology Duke University School of Medicine Durham NC.ORCID 0000-0003-0650-3664
Jordan E EzekianDepartment of Pediatrics, Division of Cardiology Duke University School of Medicine Durham NC.ORCID 0000-0002-3007-2078
Michael RosamiliaDepartment of Pediatrics, Division of Cardiology Duke University School of Medicine Durham NC.ORCID 0000-0003-1927-7176
Jill A RosenfeldDepartment of Molecular and Human Genetics Baylor College of Medicine and Baylor Genetics Laboratories Houston TX.ORCID 0000-0001-5664-7987
Pengfei LiuDepartment of Molecular and Human Genetics Baylor College of Medicine and Baylor Genetics Laboratories Houston TX.
Andrew P LandstromDepartment of Pediatrics, Division of Cardiology Duke University School of Medicine Durham NC.ORCID 0000-0002-1878-9631
Duke University · USBaylor College of Medicine · US

Funding

Support for QA/QC for Prior Approval ProcessUL1TR002553 · NCATS · DUKE UNIVERSITY · PI LI, JENNIFER S, MCNAMARA, JAMES O. · 2018 to 2023
$58.5M
NRSA Training CoreTL1TR002555 · NCATS · DUKE UNIVERSITY · PI EDELMAN, DAVID · 2018 to 2022
$3.7M
The Role of PRDM16 in Cardiac Development and CardiomyopathyR01HL149870 · NHLBI · UNIVERSITY OF UTAH · PI BOUDINA, SIHEM · 2020 to 2023
$2.8M
Stimulating Access to Research in Residency (StARR) - NHLBIR38HL143612 · NHLBI · DUKE UNIVERSITY · PI Mai ElMallah, David H. Harpole · 2018 to 2026
$2.6M
Engineered BacNav and BacCav for Improved Excitability and ContractionR01EB032726 · NIBIB · DUKE UNIVERSITY · PI BURSAC, NENAD · 2022 to 2025
$1.9M
The Role of Junctophilin Type 2 in Cardiac Node AutomaticityK08HL136839 · NHLBI · DUKE UNIVERSITY · PI LANDSTROM, ANDREW P. · 2017 to 2021
$769k
NCATS NIH HHS TL1 TR002555NCATS NIH HHS UL1 TR002553NHLBI NIH HHS K08 HL136839NHLBI NIH HHS R01 HL149870NHLBI NIH HHS R38 HL143612NIBIB NIH HHS R01 EB032726
6 · The paper itself

Abstract

Background As utilization of clinical exome sequencing (ES) has expanded, criteria for evaluating the diagnostic weight of incidentally identified variants are critical to guide clinicians and researchers. This is particularly important in genes associated with dilated cardiomyopathy (DCM), which can cause heart failure and sudden death. We sought to compare the frequency and distribution of incidentally identified variants in DCM-associated genes between a clinical referral cohort with those in control and known case cohorts to determine the likelihood of pathogenicity among those undergoing genetic testing for non-DCM indications. Methods and Results A total of 39 rare, non-

Indexed as

Cardiomyopathy, DilatedExomeExome SequencingGenetic TestingHumansVirulencedilated cardiomyopathyexome sequencinggeneticsincidental findingsecondary finding

Identifiers

PMID36129056
PMCPMC9673717
OpenAlexW4296709383

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.