Evidence map›Paper›PMID 32160020›Full record

ArticleCirculation. Genomic and precision medicine2020

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Ana Morales, Daniel D Kinnamon, Elizabeth Jordan, Julia Platt, Matteo Vatta, Michael O Dorschner, Carl A Starkey, Jonathan O Mead, Tomohiko Ai, Wylie Burke and 7 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03037632 (Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry), which is not on this map. Cited by 70 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 3 pooled it
10.3field-weighted citation impact, top 1% 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.

NCT03037632 naactive not recruitingnot on this map

Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry

TypeinterventionalSponsorRay HershbergerRan2016 to 2026Enrolled6,500ConditionsIdiopathic Dilated CardiomyopathyArmsFamily Heart Talk Booklet
3 · Its place in the literature

Who cites it

70 citing papers in PubMed, 3 syntheses or guidelines pooled it, 114 citations in OpenAlex.

  1. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
    Pooled it
  2. Guideline
  3. Pooled it
  4. Trial
  5. Trial
  6. Article
  7. Specification of frequency criteria for secondary findings genes to improve variant classification concordance.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  8. Observational
  9. Review
  10. Article
  11. Article
  12. Observational
  13. Article
  14. Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Genomics of pediatric cardiomyopathy.Pediatric research · 2025
    Review
  19. Article
  20. Article

10 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

17 authors at 12 institutions in 3 countries.

Ana MoralesDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Daniel D KinnamonDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Elizabeth JordanDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Julia PlattStanford Center for Inherited Cardiovascular Disease, Stanford University, Palo Alto, CA (J.P.).
Matteo VattaDepartment of Medical and Molecular Genetics, Indiana University, Indianapolis (M.V.).
Michael O DorschnerDepartment of Pathology (M.O.D.), University of Washington, SA.
Carl A StarkeyDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Jonathan O MeadDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Tomohiko AiDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
Wylie BurkeDepartment of Bioethics and Humanities (W.B.), University of Washington, SA.
Julie Gastier-FosterInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH (J.G.-F.).
Gail P JarvikDivision of Medical Genetics, Department of Medicine (G.P.J.), University of Washington, SA.
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital, Boston (H.L.R.).
Deborah A NickersonUniversity of Washington Center for Mendelian Genomics, Seattle (D.A.N.).
Ray E HershbergerDivision of Human Genetics, Department of Internal Medicine (A.M., D.D.K., E.J., C.S., J.M., T.A., R.E.H.), The Ohio State University, Columbus.
DCM Precision Medicine study of the DCM Consortium
DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation
The Ohio State University · USCenter for Human Genetics · USAnna Needs Neuroblastoma Answers · USBroad Institute · USCenter for Practical Bioethics · USHuman Genome Sciences (United States) · USID Genomics (United States) · USMaharaja Ganga Singh University · INNationwide Children's Hospital · USPalo Alto University · USSan Francisco VA Medical Center · USUniversity of Washington · US

Funding

Precision Medicine for Dilated Cardiomyopathy in European and African AncestryR01HL128857 · NHLBI · OHIO STATE UNIVERSITY · PI HERSHBERGER, RAY E. · 2015 to 2020
$12.4M
NHLBI NIH HHS R01 HL128857
6 · The paper itself

Abstract

backgroundThe hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that most dilated cardiomyopathy has a genetic basis. The study returns results to probands and, when indicated, to relatives. While both the American College of Medical Genetics and Genomics/Association for Molecular Pathology and ClinGen's

methodsModifications were created and approved by an external Variant Adjudication Oversight Committee. After a pilot using 81 probands, further adjustments were made, resulting in 27 criteria (9 modifications of the ClinGen

resultsThese criteria were applied to 2059 variants in a test set of 97 probands. Variants were classified as benign (n=1702), likely benign (n=33), uncertain significance (n=71), likely pathogenic (likely pathogenic; n=12), and pathogenic (P; n=3). Only 2/15 likely pathogenic/P variants were identified in Non-Hispanic African ancestry probands.

conclusionsWe tailored the ClinGen CLINICAL

trial registrationURL: https://www.clinicaltrials.gov; Unique identifier: NCT03037632.

Indexed as

Genetics, MedicalGenetic VariationPrecision MedicineCardiomyopathy, DilatedGenetic Predisposition to DiseaseGenetic TestingGenomicsHumansMutationPractice Guidelines as TopicUnited Statescardiomyopathy, dilatedgeneticsgenetic testinggenomicspathology, molecular

Identifiers

PMID32160020
PMCPMC8070981
OpenAlexW3018268201

What OpenQuestion holds

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Registered trials

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.