ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Next generation sequencing and the future of genetic diagnosis.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 2 of them syntheses 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
73 citing papers in PubMed, 2 syntheses or guidelines pooled it, 164 citations in OpenAlex.
- Pooled it
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Does genetic testing remain relevant in advanced Parkinson's disease?Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Pathogen to read: a rapid, automated workflow for public health-ready microbial sequencing.BMC genomics · 2026Article
- Comparative genomic analysis of multiple mammary tumors from a single dog: whole-genome sequencing study.Irish veterinary journal · 2025Article
- Combination of next-generation sequencing and traditional examinations for identifyingWorld journal of clinical cases · 2025Article
- BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science.Human genetics · 2025Article
- Harnessing the potential of small extracellular vesicle biomarkers for cancer diagnosis and prognosis with advanced analytical technologies.Journal of translational internal medicine · 2025Article
- Article
- Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.NPJ genomic medicine · 2025Article
- Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.Discover oncology · 2025Review
- Next-Generation Sequencing: An Advanced Diagnostic Tool for Detection of Pancreatic Disease/Disorder.JGH open : an open access journal of gastroenterology and hepatology · 2024Review
- A Comprehensive Overview of NF1 Mutations in Iranian Patients.Neuromolecular medicine · 2024Article
- Partial remission with sintilimab monotherapy in a patient carrying aOncology letters · 2024Article
- Nucleic-Acid-Based Molecular Fungal Diagnostics: A Way to a Better Future.Diagnostics (Basel, Switzerland) · 2024Review
- A particular focus on the prevalence of α-thalassemia and β-thalassemia among pregnant women in Changsha County, Hunan Province.Frontiers in genetics · 2024Article
- Advances in next-generation sequencing for relapsed pediatric acute lymphoblastic leukemia: current insights and future directions.Frontiers in genetics · 2024Review
- Review
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.Human genomics · 2023Article
13 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 at 1 institution in 1 country.
Funding
Abstract
The introduction of next generation sequencing (NGS) has led to an exponential increase of elucidated genetic causes in both extremely rare diseases and common but heterogeneous disorders. It can be applied to the whole or to selected parts of the genome (genome or exome sequencing, gene panels). NGS is not only useful in large extended families with linkage information, but may also be applied to detect de novo mutations or mosaicism in sporadic patients without a prior hypothesis about the mutated gene. Currently, NGS is applied in both research and clinical settings, and there is a rapid transition of research findings to diagnostic applications. These developments may greatly help to minimize the "diagnostic odyssey" for patients as whole-genome analysis can be performed in a few days at reasonable costs compared with gene-by-gene analysis based on Sanger sequencing following diverse clinical tests. Despite the enthusiasm about NGS, one has to keep in mind its limitations, such as a coverage and accuracy of < 100%, resulting in missing variants and false positive findings. In addition, variant interpretation is challenging as there is usually more than one candidate variant found. Therefore, there is an urgent need to define standards for NGS with respect to run quality and variant interpretation, as well as mechanisms of quality control. Further, there are ethical challenges including incidental findings and how to guide unaffected probands seeking direct-to-customer testing. However, taken together, the application of NGS in research and diagnostics provides a tremendous opportunity to better serve our patients.
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.