ArticleEJIFCC2018
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
Article in EJIFCC, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 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
74 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A practical guide to identifying associations between tandem repeats and complex human traits using consensus genotypes from multiple tools.Nature protocols · 2026Guideline
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- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
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- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.Discover oncology · 2025Review
- Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.American journal of human genetics · 2025Article
- Advancing the fight against tuberculosis: integrating innovation and public health in diagnosis, treatment, vaccine development, and implementation science.Frontiers in medicine · 2025Review
- The Ligurian Experience in the Management of Lung Cancer: Organizational Models and New Perspectives.Healthcare (Basel, Switzerland) · 2024Article
- DNA sequencing in oncology: a focus group study on a duty to recontact.Future science OA · 2024Article
- Identification and characterization ofClinical case reports · 2024Article
- Tuberculosis Diagnosis: Current, Ongoing, and Future Approaches.Diseases (Basel, Switzerland) · 2024Review
- Nucleic Acid Based Testing (NABing): A Game Changer Technology for Public Health.Molecular biotechnology · 2024Review
- A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium.Translational oncology · 2024Article
- Microbial Symphony: Navigating the Intricacies of the Human Oral Microbiome and Its Impact on Health.Microorganisms · 2024Review
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.Journal of community genetics · 2024Article
- Assessment of Genetic Stability in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes by Using Droplet Digital PCR.International journal of molecular sciences · 2024Article
- Cancer treatment comes to age: from one-size-fits-all to next-generation sequencing (NGS) technologies.BioImpacts : BI · 2024Review
- The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.Cureus · 2023Review
14 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue of NGS data analysis, as well as the interpretation of unknown genetic variants and the management of the incidental findings. Moreover, we focus the attention on the new professional figure of bioinformatics and the new role of medical geneticists in clinical management of patients. Furthermore, we consider some of the main clinical applications of NGS, taking into consideration that there will be a growing progress in this field in the forthcoming future.
Indexed as
Identifiers
29765282PMC5949614What 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.