ArticleHuman mutation2017
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Prevalence and clinical features of hearing loss caused by EYA4 variants.Scientific reports · 2020Trial
- Transformative Applications and Innovations in Next-Generation Sequencing Data Analysis.Journal of applied genetics · 2026Review
- Frequency and Hearing Loss Phenotypes ofGenes · 2026Article
- Article
- The Clinical Details ofGenes · 2026Article
- LOXHD1b knockout alters swimming behavior in zebrafish.Cell and tissue research · 2025Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Scientific reports · 2024Article
- 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
- Genetic background in late-onset sensorineural hearing loss patients.Journal of 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
- Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.Human genetics · 2022Article
- Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.Scientific reports · 2022Article
- A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.Human genetics · 2020Article
- Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Human mutation · 2017Article
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2 authors.
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Abstract
Recent advances in next-generation sequencing (NGS) have given rise to new challenges due to the difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases as well as public or commercial disease-specific databases. Here, we report a new database development tool, named the "Clinical NGS Database," for improving clinical NGS workflow through the unified management of variant information and clinical information. This database software offers a two-feature approach to variant pathogenicity classification. The first of these approaches is a phenotype similarity-based approach. This database allows the easy comparison of the detailed phenotype of each patient with the average phenotype of the same gene mutation at the variant or gene level. It is also possible to browse patients with the same gene mutation quickly. The other approach is a statistical approach to variant pathogenicity classification based on the use of the odds ratio for comparisons between the case and the control for each inheritance mode (families with apparently autosomal dominant inheritance vs. control, and families with apparently autosomal recessive inheritance vs. control). A number of case studies are also presented to illustrate the utility of this database.
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