ArticleJournal of translational medicine2014
Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.
Article in Journal of translational medicine, 2014. 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, 22 citations in OpenAlex.
- Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population.Journal of cardiovascular development and disease · 2022Article
- Monogenic basis of young-onset cryptogenic stroke: a multicenter study.Annals of translational medicine · 2022Article
- Long QT syndrome with potassium voltage-gated channel subfamily H member 2 gene mutation mimicking refractory epilepsy: case report.BMC neurology · 2021Article
- Article
- Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study.Frontiers of medicine · 2021Article
- Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.Journal of assisted reproduction and genetics · 2021Article
- Gut microorganisms and their metabolites modulate the severity of acute colitis in a tryptophan metabolism-dependent manner.European journal of nutrition · 2020Article
- MYH7B variants cause hypertrophic cardiomyopathy by activating the CaMK-signaling pathway.Science China. Life sciences · 2020Article
- Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.Molecular medicine reports · 2018Article
- Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.Circulation. Cardiovascular genetics · 2017Article
- Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.PloS one · 2017Article
- Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.Molecular medicine reports · 2016Article
- Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The application of clinical genetics · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRapidly determining the complex genetic basis of Hypertrophic cardiomyopathy (HCM) is vital to better understanding and optimally managing this common polygenetic cardiovascular disease.
methodsA rapid custom Ion-amplicon-resequencing assay, covering 30 commonly affected genes of HCM, was developed and validated in 120 unrelated patients with HCM to facilitate genetic diagnosis of this disease. With this HCM-specific panel and only 20 ng of input genomic DNA, physicians can, for the first time, go from blood samples to variants within a single day.
resultsOn average, this approach gained 595628 mapped reads per sample, 95.51% reads on target (64.06 kb), 490-fold base coverage depth and 93.24% uniformity of base coverage in CDS regions of the 30 HCM genes. After validation, we detected underlying pathogenic variants in 87% (104 of 120) samples. Tested seven randomly selected HCM genes in eight samples by Sanger sequencing, the sensitivity and false-positive-rate of this HCM panel was 100% and 5%, respectively.
conclusionsThis Ion amplicon HCM resequencing assay provides a currently most rapid, comprehensive, cost-effective and reliable measure for genetic diagnosis of HCM in routinely obtained samples.
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.