ReviewThe Journal of molecular diagnostics : JMD2008
Keeping up with the next generation: massively parallel sequencing in clinical diagnostics.
Review in The Journal of molecular diagnostics : JMD, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 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
67 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The genetic underpinnings of callous-unemotional traits: A systematic research review.Neuroscience and biobehavioral reviews · 2019Pooled it
- A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms.Frontiers in genetics · 2020Article
- Rational "Error Elimination" Approach to Evaluating Molecular Barcoded Next-Generation Sequencing Data Identifies Low-Frequency Mutations in Hematologic Malignancies.The Journal of molecular diagnostics : JMD · 2019Article
- Impact of Polymerase Fidelity on Background Error Rates in Next-Generation Sequencing with Unique Molecular Identifiers/Barcodes.Scientific reports · 2019Article
- Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.Familial cancer · 2019Article
- Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- A Next-Generation Sequencing-Based Platform for Quantitative Detection of Hepatitis B Virus Pre-S Mutants in Plasma of Hepatocellular Carcinoma Patients.Scientific reports · 2018Article
- Cost analysis of whole genome sequencing in German clinical practice.The European journal of health economics : HEPAC : health economics in prevention and care · 2017Article
- Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing.Nature protocols · 2017Article
- Genomics pipelines and data integration: challenges and opportunities in the research setting.Expert review of molecular diagnostics · 2017Review
- Microbial Ecology: Where are we now?Postdoc journal : a journal of postdoctoral research and postdoctoral affairs · 2016Article
- Standardization and quality management in next-generation sequencing.Applied & translational genomics · 2016Review
- Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencing.Nucleic acids research · 2016Article
- The next generation of cancer management.Cancer biology & medicine · 2016Article
- Management of Incidental Findings in the Era of Next-generation Sequencing.Current genomics · 2015Article
- Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.Current opinion in endocrinology, diabetes, and obesity · 2015Review
- Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.BioMed research international · 2015Review
- New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Molecular vision · 2015Article
- Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.The application of clinical genetics · 2015Review
- Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.Clinical genetics · 2014Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The speed, accuracy, efficiency, and cost-effectiveness of DNA sequencing have been improving continuously since the initial derivation of the technique in the mid-1970s. With the advent of massively parallel sequencing technologies, DNA sequencing costs have been dramatically reduced. No longer is it unthinkable to sequence hundreds or even thousands of genes in a single individual with a suspected genetic disease or complex disease predisposition. Along with the benefits offered by these technologies come a number of challenges that must be addressed before wide-scale sequencing becomes accepted medical practice. Molecular diagnosticians will need to become comfortable with, and gain confidence in, these new platforms, which are based on radically different technologies compared to the standard DNA sequencers in routine use today. Experience will determine whether these instruments are best applied to sequencing versus resequencing. Perhaps most importantly, along with increasing read lengths inevitably comes increased ascertainment of novel sequence variants of uncertain clinical significance, the postanalytical aspects of which could bog down the entire field. But despite these obstacles, and as a direct result of the promises these sequencing advances present, it will likely not be long before next-generation sequencing begins to make an impact in molecular medicine. In this review, technical issues are discussed, in addition to the practical considerations that will need to be addressed as advances push toward personal genome sequencing.
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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.