ArticleClinical pharmacology and therapeutics2011
The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise.
Article in Clinical pharmacology and therapeutics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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.
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.
Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Comment on "CYP2C19 genotyping and mavacamten: predicting outcomes in normal, intermediate and rapid metabolisers in obstructive hypertrophic cardiomyopathy".European journal of clinical pharmacology · 2026Article
- Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.Journal of visualized experiments : JoVE · 2019Article
- A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.Clinical case reports · 2019Article
- Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.BMC cardiovascular disorders · 2018Article
- Article
- Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.Circulation. Arrhythmia and electrophysiology · 2017Article
- Review
- Genetic advances in sarcomeric cardiomyopathies: state of the art.Cardiovascular research · 2015Review
- Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.Cardiovascular research · 2014Review
- Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.Scientific reports · 2014Article
- The junctophilin family of proteins: from bench to bedside.Trends in molecular medicine · 2014Review
- An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.Circulation research · 2013Article
- Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.Journal of the American College of Cardiology · 2012Article
Corrections and comments
- Comment on
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic "noise" rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.
Indexed as
Identifiers
What OpenQuestion holds
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.