ArticleThe Journal of molecular diagnostics : JMD2010
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 44 citations in OpenAlex.
- Application of second-generation sequencing in congenital pulmonary airway malformations.Scientific reports · 2022Article
- Polycyclic aromatic hydrocarbons associated long non-coding RNAs and heart rate variability in coke oven workers.Environmental science and pollution research international · 2021Article
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta ophthalmologica · 2019Article
- ClinQC: a tool for quality control and cleaning of Sanger and NGS data in clinical research.BMC bioinformatics · 2016Article
- Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.Immunologic research · 2016Article
- The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.Journal of personalized medicine · 2016Article
- Cpipe: a shared variant detection pipeline designed for diagnostic settings.Genome medicine · 2015Article
- Next-generation carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.Journal of medical genetics · 2013Article
- Disease-targeted sequencing: a cornerstone in the clinic.Nature reviews. Genetics · 2013Article
- Almanac 2011: cardiomyopathies. The national society journals present selected research that has driven recent advances in clinical cardiology.Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Medical sequencing for diseases with locus and allelic heterogeneities has been limited by the high cost and low throughput of traditional sequencing technologies. "Second-generation" sequencing (SGS) technologies allow the parallel processing of a large number of genes and, therefore, offer great promise for medical sequencing; however, their use in clinical laboratories is still in its infancy. Our laboratory offers clinical resequencing for dilated cardiomyopathy (DCM) using an array-based platform that interrogates 19 of more than 30 genes known to cause DCM. We explored both the feasibility and cost effectiveness of using PCR amplification followed by SGS technology for sequencing these 19 genes in a set of five samples enriched for known sequence alterations (109 unique substitutions and 27 insertions and deletions). While the analytical sensitivity for substitutions was comparable to that of the DCM array (98%), SGS technology performed better than the DCM array for insertions and deletions (90.6% versus 58%). Overall, SGS performed substantially better than did the current array-based testing platform; however, the operational cost and projected turnaround time do not meet our current standards. Therefore, efficient capture methods and/or sample pooling strategies that shorten the turnaround time and decrease reagent and labor costs are needed before implementing this platform into routine clinical applications.
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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.