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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive
Naoko Sakuma1,2, Hideaki Moteki2, Masahiro Takahashi1
1Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, Yokohama City University, Yokohama, Japan.
Journal of Human Genetics
|January 15, 2016
Summary
Identifying the genetic cause of deafness aids patient care. This study found genetic testing identified the cause in 40% of deafness cases, with higher rates in specific patient groups.
Area of Science:
- Genetics
- Audiology
- Molecular Biology
Background:
- Genetic factors are a significant cause of deafness, impacting clinical management.
- Accurate diagnosis of genetic hearing loss is crucial for patient care and treatment strategies.
Purpose of the Study:
- To evaluate the diagnostic yield of a multi-stage genetic testing approach for deafness.
- To determine the effectiveness of different genetic assays in identifying the etiology of hearing loss.
Main Methods:
- Employed a three-stage genetic testing strategy on 52 deafness subjects.
- Utilized Invader assay and Sanger sequencing (Stage 1), TaqMan genotyping (Stage 2), and massively parallel DNA sequencing (Stage 3).
Main Results:
- Identified the genetic cause in 40% (21/52) of patients.
- Achieved diagnostic rates of 50% for autosomal dominant, 60% for autosomal recessive, and 34% for sporadic cases.
- Diagnostic rate increased to 48% for sporadic cases with congenital, severe hearing loss.
Conclusions:
- A combined genetic testing approach is effective for diagnosing deafness.
- Recommends initial screening with Invader assay or TaqMan genotyping, followed by targeted exon sequencing for undiagnosed cases.
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