Evidence map›Paper›PMID 34461741›Full record

Trial reportCirculation. Genomic and precision medicine2021

Contribution of Noncanonical Splice Variants to

Parth N Patel, Kaoru Ito, Jon A L Willcox, Alireza Haghighi, Min Young Jang, Joshua M Gorham, Steven R DePalma, Lien Lam, Barbara McDonough, Renee Johnson and 7 more

Open access · bronzeAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
5.2field-weighted citation impact, top 3% 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

16 citing papers in PubMed, 26 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Observational
  5. Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024
    Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. How Functional Genomics Can Keep Pace With VUS Identification.Frontiers in cardiovascular medicine · 2022
    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

17 authors at 7 institutions in 6 countries.

Parth N PatelDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0003-3561-796X
Kaoru ItoDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0003-1843-773X
Jon A L WillcoxDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-3782-4770
Alireza HaghighiDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0003-0683-4922
Min Young JangDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.
Joshua M GorhamDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0001-5969-4690
Steven R DePalmaDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-0381-5016
Lien LamDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0003-4539-6638
Barbara McDonoughDepartment of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-4257-8623
Renee JohnsonVictor Chang Cardiac Research Institute, Darlinghurst (R.J., D.F.).ORCID 0000-0002-8979-2096
Neal K LakdawalaDivision of Cardiovascular Medicine, Brigham and Women's Hospital (N.K.L., C.E.S.).ORCID 0000-0001-6458-5421
Amy RobertsDepartment of Cardiology, Boston Children's Hospital, MA (A.R.).ORCID 0000-0001-5827-8521
Paul J R BartonNational Heart and Lung Institute (P.J.R.B., S.A.C.).ORCID 0000-0002-1165-7767
Stuart A CookNational Heart and Lung Institute (P.J.R.B., S.A.C.).ORCID 0000-0001-6628-194X
Diane FatkinVictor Chang Cardiac Research Institute, Darlinghurst (R.J., D.F.).ORCID 0000-0002-9010-9856
Christine E Seidman *Department of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0001-6380-1209
J G Seidman *Department of Genetics (P.N.P., K.I., J.A.L.W., A.H., M.Y.J., J.M.G., S.R.D., L.L., B.M., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-9082-3566
Brigham and Women's Hospital · USHarvard University · USMACOM (United States) · USVictor Chang Cardiac Research Institute · AUBoston Children's Hospital · USHarefield Hospital · GBLung Institute · US

Funding

Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4M
Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
Discovery of Novel Genetic Variants Underlying Unexplained Hypertrophic Cardiomyopathy by Whole Genome Sequencing, RNA-seq and iPSC modelingK08HL150284 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HAGHIGHI, ALIREZA · 2020 to 2024
$832k
British Heart FoundationHoward Hughes Medical InstituteMedical Research Council MC_U120085815NHLBI NIH HHS K08 HL150284NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553
6 · The paper itself

Abstract

backgroundHeterozygous

methodsRare variants of unknown significance located in the splice regions of highly expressed

resultsSplice-altering variants of unknown significance were enriched in DCM cases over controls and present in 2% of DCM patients (

conclusionsNoncanonical splice-altering variants in

Indexed as

ExonsHeterozygoteRNA SplicingAdolescentAdultCardiomyopathy, DilatedConnectinFemaleHumansMaleMiddle AgedConnectinTTN protein, humancardiomyopathyexonintronRNA splicingTTN protein, human

Identifiers

PMID34461741
PMCPMC8788938
OpenAlexW3197142803

What OpenQuestion holds

Textmetadata
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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.