ReviewAmerican journal of human genetics2009
Massively parallel sequencing: the next big thing in genetic medicine.
Review in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03084224 (Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases), which is not on this map. Cited by 145 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.
Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases
Who cites it
145 citing papers in PubMed.
- Comparative Analysis Between the EuroClonality-NGS Approach and the LymphoTrackInternational journal of molecular sciences · 2026Article
- Next-generation sequencing in breast cancer: current clinical applications and future directions.Annals of medicine · 2025Review
- Article
- Tumor Mutations in Minority Populations Versus Non-Hispanic Whites Across Tumor Types.JCO precision oncology · 2025Article
- Cost-Effective DNA Storage System with DNA Movable Type.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Molecular typing of Mycobacterium tuberculosis: a review of current methods, databases, softwares, and analytical tools.FEMS microbiology reviews · 2025Review
- Integrated Multi-Omics Approaches for Predicting Immune Checkpoint Inhibitor Response in NSCLC - Insights From Genomics, Proteomics, and Metabolomics.Lung Cancer (Auckland, N.Z.) · 2025Review
- Constellation-based classification of avian reovirus in turkeys reveals shared virus origins among different meat-type farms.Frontiers in veterinary science · 2025Article
- DNA methylation in esophageal cancer: technological advances and early detection clinical applications.Frontiers in oncology · 2025Review
- Using short-read 16S rRNA sequencing of multiple variable regions to generate high-quality results to a species level.Frontiers in bioinformatics · 2025Article
- Enriching the future of public health microbiology with hybridization bait capture.Clinical microbiology reviews · 2024Review
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Estimating postmortem interval based on oral microbial community succession in rat cadavers.Heliyon · 2024Article
- The Development and Characterisation of ssDNA Aptamers via a Modified Cell-SELEX Methodology for the Detection of Human Red Blood Cells.International journal of molecular sciences · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- Application of Nanopore Sequencing in the Diagnosis and Treatment of Pulmonary Infections.Molecular diagnosis & therapy · 2023Review
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- From Genomics to Metagenomics in the Era of Recent Sequencing Technologies.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Bioinformatics: From NGS Data to Biological Complexity in Variant Detection and Oncological Clinical Practice.Biomedicines · 2022Review
- The enhancement of DNA fragmentation in a bench top ultrasonic water bath with needle-induced air bubbles: Simulation and experimental investigation.Biomicrofluidics · 2022Article
85 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
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Massively parallel sequencing has reduced the cost and increased the throughput of genomic sequencing by more than three orders of magnitude, and it seems likely that costs will fall and throughput improve even more in the next few years. Clinical use of massively parallel sequencing will provide a way to identify the cause of many diseases of unknown etiology through simultaneous screening of thousands of loci for pathogenic mutations and by sequencing biological specimens for the genomic signatures of novel infectious agents. In addition to providing these entirely new diagnostic capabilities, massively parallel sequencing may also replace arrays and Sanger sequencing in clinical applications where they are currently being used. Routine clinical use of massively parallel sequencing will require higher accuracy, better ways to select genomic subsets of interest, and improvements in the functionality, speed, and ease of use of data analysis software. In addition, substantial enhancements in laboratory computer infrastructure, data storage, and data transfer capacity will be needed to handle the extremely large data sets produced. Clinicians and laboratory personnel will require training to use the sequence data effectively, and appropriate methods will need to be developed to deal with the incidental discovery of pathogenic mutations and variants of uncertain clinical significance. Massively parallel sequencing has the potential to transform the practice of medical genetics and related fields, but the vast amount of personal genomic data produced will increase the responsibility of geneticists to ensure that the information obtained is used in a medically and socially responsible manner.
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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.