Back to search

Article

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic Approach

2024-12-10

Abstract excerpt

Despite the advent of Next-Generation Sequencing (NGS), genetic diagnosis of genetic disorders remains challenging, with diagnostic rates plateauing at approximately 50%. We investigated sensorineural hearing loss (SNHL), a prevalent sensory disorder with substantial genetic heterogeneity, through a comprehensive genomic analysis of a homogeneous disease cohort. Leveraging 394 families (750 individuals), we implem...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
a978f400-805e-5a63-9971-fa6f1bfae899
DOI
10.1101/2024.12.08.24318682
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic ApproachDOI 10.1101/2024.12.08.24318682
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approachSemantic proximity
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossSemantic proximity
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.Semantic proximity
Next-Generation Sequencing Facilitates Genetic Diagnosis And Improves The Management Of Patients With Hearing Loss In Clinical PracticeSemantic proximity
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical PracticeSemantic proximity
Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.Semantic proximity
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Semantic proximity
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian PopulationSemantic proximity
The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohortSemantic proximity
Polygenic Contribution to Sensorineural Hearing Loss Implicates Novel Risk Loci and Convergence with Congenital Hearing Loss Genes.Semantic proximity
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.Semantic proximity
Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.Semantic proximity
Select a neighboring publication to make it the new centre.