ReviewThe Journal of molecular diagnostics : JMD2010
Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.
Review 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 43 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
43 citing papers in PubMed, 129 citations in OpenAlex.
- A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.Current issues in molecular biology · 2026Article
- Implementation of multiomic mass spectrometry approaches for the evaluation of human health following environmental exposure.Molecular omics · 2024Review
- Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events.Scientific reports · 2022Article
- A Comprehensive Review of Performance of Next-Generation Sequencing Platforms.BioMed research international · 2022Review
- Lightweight Pattern Matching Method for DNA Sequencing in Internet of Medical Things.Computational intelligence and neuroscience · 2022Article
- Whole-Genome Resequencing of Near-Isogenic Lines Reveals a Genomic Region Associated with HighPlants (Basel, Switzerland) · 2021Article
- Article
- Advances in Multi-Omics Approaches for Molecular Breeding of Black Rot Resistance inFrontiers in plant science · 2021Review
- Next Generation Sequencing Based Forward Genetic Approaches for Identification and Mapping of Causal Mutations in Crop Plants: A Comprehensive Review.Plants (Basel, Switzerland) · 2020Review
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta ophthalmologica · 2019Article
- Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.Prenatal diagnosis · 2018Review
- Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.International journal of molecular medicine · 2016Article
- OSAnalyzer: A Bioinformatics Tool for the Analysis of Gene Polymorphisms Enriched with Clinical Outcomes.Microarrays (Basel, Switzerland) · 2016Article
- Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.Expert review of molecular diagnostics · 2016Review
- Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.Journal of medical genetics · 2016Article
- Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.Journal of cardiovascular translational research · 2016Article
- Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.Pediatric nephrology (Berlin, Germany) · 2016Article
- Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.Frontiers in genetics · 2015Review
- Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Exome sequencing: new insights into lipoprotein disorders.Current cardiology reports · 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
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the past five years, new high-throughput DNA sequencing technologies have emerged; these technologies are collectively referred to as next generation sequencing (NGS). By virtue of sequencing clonally amplified DNA templates or single DNA molecules in a massively parallel fashion in a flow cell, NGS provides both qualitative and quantitative sequence data. This combination of information has made NGS the technology of choice for complex genetic analyses that were previously either technically infeasible or cost prohibitive. As a result, NGS has had a fundamental and broad impact on many facets of biomedical research. In contrast, the dissemination of NGS into the clinical diagnostic realm is in its early stages. Though NGS is powerful and can be envisioned to have multiple applications in clinical diagnostics, the technology is currently complex. Successful adoption of NGS into the clinical laboratory will require expertise in both molecular biology techniques and bioinformatics. The current report presents principles that underlie NGS including sequencing library preparation, sequencing chemistries, and an introduction to NGS data analysis. These concepts are subsequently further illustrated by showing representative results from a case study using NGS for targeted resequencing of genes implicated in hypertrophic cardiomyopathy.
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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.