ArticleMolecular genetics and metabolism reports2019
Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Detection of respiratory viruses directly from clinical samples using next-generation sequencing: A literature review of recent advances and potential for routine clinical use.Reviews in medical virology · 2022Pooled it
- Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis.Human genomics · 2019Pooled it
- Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study.Frontiers in genetics · 2026Article
- Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.Frontiers in genetics · 2025Article
- VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.Orphanet journal of rare diseases · 2024Review
- Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.NPJ genomic medicine · 2024Article
- Assessment of Genetic Stability in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes by Using Droplet Digital PCR.International journal of molecular sciences · 2024Article
- Cross-platform comparisons for targeted bisulfite sequencing of MGISEQ-2000 and NovaSeq6000.Clinical epigenetics · 2023Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.Human genomics · 2023Article
- Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Five years' experience of the clinical exome sequencing in a Spanish single center.Scientific reports · 2022Article
- Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.Life (Basel, Switzerland) · 2022Review
- Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.Pediatric research · 2022Article
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- Article
- Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events.Scientific reports · 2022Article
- Improving diagnostics of rare genetic diseases with NGS approaches.Journal of community genetics · 2021Article
- Article
Corrections and comments
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to meet the genetic testing needs at the University of Minnesota. A single hybrid capture library preparation was used for each test ordered, data was informatically blinded to clinically-ordered genes, and identified variants were reviewed and classified by genetic counselors and molecular pathologists. We performed 2509 sequencing tests from August 2012 till December 2017. The diagnostic yield has remained steady at 25%, but the number of variants of uncertain significance (VUS) included in a patient report decreased over time with 50% of the patient reports including at least one VUS in 2012 and only 22% of the patient reports reporting a VUS in 2017 (p = .002). Among the various clinical specialties, the diagnostic yield was highest in dermatology (60% diagnostic yield) and ophthalmology (42% diagnostic yield) while the diagnostic yield was lowest in gastrointestinal diseases and pulmonary diseases (10% detection yield in both specialties). Deletion/duplication analysis was also implemented in a subset of panels ordered, with 9% of samples having a diagnostic finding using the deletion/duplication analysis. We have demonstrated the feasibility of this broad-based NGS platform to meet the needs of our academic institution by aggregating a sufficient sample volume from many individually rare tests and providing a flexible ordering for custom, patient-specific panels.
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