ArticleCirculation. Genomic and precision medicine2023
Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled 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.
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
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnosis and management of dilated cardiomyopathy: a systematic review of clinical practice guidelines and recommendations.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Heart rhythm · 2026Article
- Genetic and Genomic Testing in Cardiovascular Disease: A Policy Statement From the American Heart Association.Circulation · 2025Review
- Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.Journal of the American Heart Association · 2025Article
- Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.ESC heart failure · 2025Review
- PidTools: Algorithm and web tools for crop pedigree identification analysis.Computational and structural biotechnology journal · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
backgroundWith genetic testing advancements, the burden of incidentally identified cardiac disease-associated gene variants is rising. These variants may carry a risk of sudden cardiac death, highlighting the need for accurate diagnostic interpretation. We sought to identify pathogenic hotspots in sudden cardiac death-associated genes using amino acid-level signal-to-noise (S:N) analysis and develop a web-based precision medicine tool,
methodsThe minor allele frequency of putatively pathogenic variants was derived from cohort-based cardiomyopathy and channelopathy studies in the literature. We normalized disease-associated minor allele frequencies to rare variants in an ostensibly healthy population (Genome Aggregation Database) to calculate amino acid-level S:N. Amino acids with S:N above the gene-specific threshold were defined as hotspots.
resultsWe developed
conclusions
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.