ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.Experimental & molecular medicine · 2025Article
- Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.Human mutation · 2025Article
- A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.BMC medical genomics · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.Human mutation · 2024Article
- Article
- Long-read sequencing for molecular diagnostics in constitutional genetic disorders.Human mutation · 2022Review
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.Orphanet journal of rare diseases · 2022Article
- Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.Frontiers in genetics · 2022Article
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.The application of clinical genetics · 2022Article
- Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss.Laryngoscope investigative otolaryngology · 2021Review
- A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.BMC medical genomics · 2021Article
- Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.Scientific reports · 2021Article
- Application of Next Generation Sequencing in Laboratory Medicine.Annals of laboratory medicine · 2021Review
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.Iranian journal of basic medical sciences · 2020Review
- A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.Genome medicine · 2020Article
- Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.Frontiers in pediatrics · 2020Review
- Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.BMC medical genomics · 2019Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.
methodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes.
resultsES resulted in good coverage of the selected genes with 98.24% of targeted bases at >15 ×. A fill-in strategy was developed for the poorly covered regions, which generally fell within GC-rich or highly homologous regions. Prospective testing of 33 patients with NSHL revealed a diagnosis in 11 (33%) and a possible diagnosis in 8 cases (24.2%). Among those, 10 individuals had variants in tier 1 genes. The ES data in the remaining nondiagnostic cases are readily available for further analysis.
conclusionThe tiered and ES-based test provides an efficient and cost-effective diagnostic strategy for NSHL, with the potential to reflex to full exome to identify causal changes outside of the AUDIOME test.
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