Clinical NGS DB

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Clinical NGS DB

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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clinical_ngs_db

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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Other names: clinical_ngs_db

Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

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The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification
PMID: 28008688

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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• The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification PubMed citations: 8.

  8 articles citing: The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

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  Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. PMID:35022556

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  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. PMID:35020051

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  Genetic background in late-onset sensorineural hearing loss patients. PMID:34824372

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  The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. PMID:34599366

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  Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. PMID:34523024

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  A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. PMID:32382995

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  Prevalence and clinical features of hearing loss caused by EYA4 variants. PMID:32107406

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  Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. PMID:28714225

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preclinical and clinical studies

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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sequencing

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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phylogenetics

metasource: bio.tools
version: extracted_at: 2022-11-04T11:33:15.900440

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preclinical and clinical studies sequencing genetic variation phylogenetics