Trial reportGenetic testing and molecular biomarkers2015
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Trial report in Genetic testing and molecular biomarkers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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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.
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Who cites it
29 citing papers in PubMed.
- Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.Genetic testing and molecular biomarkers · 2021Trial
- Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.PloS one · 2016Trial
- Frequency and Hearing Loss Phenotypes ofGenes · 2026Article
- Article
- The Clinical Details ofGenes · 2026Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- Article
- The Prevalence and Clinical Characteristics ofGenes · 2025Article
- NovelGenes · 2025Article
- The Heterozygous p.A684V Variant in theGenes · 2025Article
- Article
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Scientific reports · 2024Article
- Genetic background in late-onset sensorineural hearing loss patients.Journal of human genetics · 2022Article
- Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.Human genetics · 2022Article
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
- Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.Human genetics · 2022Article
- Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.Scientific reports · 2022Article
- A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.BMC neurology · 2021Article
- Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.The Journal of clinical investigation · 2019Article
- Target SSR-Seq: A Novel SSR Genotyping Technology Associate With Perfect SSRs in Genetic Analysis of Cucumber Varieties.Frontiers in plant science · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital hearing loss is one of the most common sensory disorders, with 50-70% of cases attributable to genetic causes. Although recent advances in the identification of deafness genes have resulted in more accurate molecular diagnosis, leading to the better determination of suitable clinical interventions, difficulties remain with regard to clinical applications due to the extreme genetic heterogeneity of deafness.
aimToward more effective genetic testing, we adopted Massively Parallel DNA Sequencing (MPS) of target genes using an Ion PGM™ system and an Ion AmpliSeq™ panel to diagnose common mutations responsible for deafness and discover rare causative gene mutations. Before its clinical application, we investigated the accuracy of MPS-based genetic testing.
resultsWe compared the results of Invader assay-based genetic screening, the accuracy of which has already been verified in previous studies, with those of MPS-based genetic testing for a large population of Japanese deafness patients and revealed that over 99.98% of the results were the same for each genetic testing system.
conclusionThe Ion Personal Genome Machine system had sufficient uniformity and accuracy for application to the clinical diagnosis of common causative mutations and efficiently identified rare causative mutations and/or mutation candidates.
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