Evidence map›Paper›PMID 37600050›Full record

ReviewFrontiers in cardiovascular medicine2023

Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy.

Chang Yoon Doh, Thomas Kampourakis, Kenneth S Campbell, Julian E Stelzer

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in cardiovascular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023
    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

4 authors at 3 institutions in 2 countries.

Chang Yoon DohSchool of Medicine, Case Western Reserve University, Cleveland, OH, United States.
Thomas KampourakisRandall Centre for Cell and Molecular Biophysics, and British Heart Foundation Centre of Research Excellence, King's College London, London, United Kingdom.
Kenneth S CampbellDivision of Cardiovascular Medicine, University of Kentucky, Lexington, KY, United States.
Julian E StelzerDepartment of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH, United States.
Case Western Reserve University · USKing's College London · GBUniversity of Kentucky · US

Funding

Computer modeling of myosin binding protein C and its effects on cardiac contractionR01HL146676 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI Kenneth S Campbell, Julian Stelzer · 2019 to 2026
$4.3M
Functional consequences of FHC mutations in cardiac MyBPCR01HL114770 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI STELZER, JULIAN · 2013 to 2023
$4.3M
Novel downstream effectors of protein kinase G in hypertensive diseaseR01HL153236 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI STELZER, JULIAN · 2021 to 2024
$2.5M
NHLBI NIH HHS R01 HL114770NHLBI NIH HHS R01 HL146676NHLBI NIH HHS R01 HL153236
6 · The paper itself

Abstract

With the advent of next-generation whole genome sequencing, many variants of uncertain significance (VUS) have been identified in individuals suffering from inheritable hypertrophic cardiomyopathy (HCM). Unfortunately, this classification of a genetic variant results in ambiguity in interpretation, risk stratification, and clinical practice. Here, we aim to review some basic science methods to gain a more accurate characterization of VUS in HCM. Currently, many genomic data-based computational methods have been developed and validated against each other to provide a robust set of resources for researchers. With the continual improvement in computing speed and accuracy, in silico molecular dynamic simulations can also be applied in mutational studies and provide valuable mechanistic insights. In addition, high throughput

Indexed as

arrhythmogenic cardiomyopathycardiac myosin binding protein C (cMyBP-C)dilated cardiomyopathy (DCM)high throughput screen (HTS)hypertrophic cardiomyopathy (HCM)mathematical modeling & simulationrestrictive cardiomyopathy (RCM)variants of uncertain clinical significance (VUS)

Identifiers

PMID37600050
PMCPMC10432852
OpenAlexW4385446672

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.