ReviewJACC. Basic to translational science2020
Clinical Interpretation and Management of Genetic Variants.
Review in JACC. Basic to translational science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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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.
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Who cites it
45 citing papers in PubMed.
- Molecular genetics in laboratory medicine: from foundations to the future of precision diagnostics.Advances in laboratory medicine · 2026Article
- Persistent sheaf Laplacian analysis of protein stability and solubility changes upon mutation.Protein science : a publication of the Protein Society · 2026Article
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Potentially Functional Variants ofCancers · 2026Article
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- Article
- Genetic associations of corneal astigmatism in Hong Kong Chinese children.Scientific reports · 2026Article
- Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.BioData mining · 2026Article
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.Human mutation · 2026Article
- Association of theFrontiers in medicine · 2026Article
- Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing.Frontiers in genetics · 2026Review
- Functional Testing of Human Disease Missense Variants inKidney international reports · 2025Article
- Article
- Regulation ofInternational journal of molecular sciences · 2025Review
- Prediction of human pathogenic start loss variants based on self-supervised contrastive learning.BMC biology · 2025Article
- High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.Molecular biology reports · 2025Article
- Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.NAR genomics and bioinformatics · 2025Article
- PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants.Human genetics · 2025Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances in the short-read sequencing technologies, despite some shortcomings, have enabled identification of the vast majority of the genetic variants in each genome. The major challenge is in identifying the pathogenic variants in cardiovascular diseases. The yield of the genetic testing has been limited because of technological shortcomings and our incomplete understanding of the genetic basis of cardiovascular disorders. To advance the field, a shift to long-read sequencing platforms is necessary. In addition, to discern the pathogenic variants, genetic diseases should be considered as a continuum and the genetic variants as probabilistic factors with a gradient of effect sizes. Moreover, disease-specific physician-scientists with expertise in the clinical medicine and molecular genetics are best equipped to discern functional and clinical significance of the genetic variants. The changes would be expected to enhance clinical utilities of the genetic discoveries.
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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.