Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects
| Autor: | Ahmad N. Abou Tayoun, Stefan Rentas |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
DNA Copy Number Variations Computational biology Deafness Biology DNA sequencing Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Genetics Humans Digital polymerase chain reaction Multiplex Multiplex ligation-dependent probe amplification Copy-number variation Hearing Loss Molecular Biology Exome sequencing High-Throughput Nucleotide Sequencing 030104 developmental biology 030220 oncology & carcinogenesis Intercellular Signaling Peptides and Proteins Molecular Medicine DNA microarray Multiplex Polymerase Chain Reaction STRC |
| Zdroj: | Expert Review of Molecular Diagnostics. 21:213-221 |
| ISSN: | 1744-8352 1473-7159 |
| Popis: | Introduction: Genetic variants in over 100 genes can cause non-syndromic hearing loss (NSHL). Comprehensive diagnostic testing of these genes requires detecting pathogenic sequence and copy number alterations with economical, scalable and sensitive assays. Here we discuss best practices and effective testing algorithms for hearing-loss-related genes with special emphasis on detection of copy number variants.Areas covered: We review studies that used next-generation sequencing (NGS), chromosomal microarrays, droplet digital PCR (ddPCR), and multiplex ligation-dependent probe amplification (MLPA) for the diagnosis of NSHL. We specifically focus on unique and recurrent copy number changes that affect the GJB2 and STRC genes, two of the most common causes of NSHL.Expert opinion: NGS panels and exome sequencing can detect most pathogenic sequence and copy number variants that cause NSHL; however, GJB2 and STRC currently require additional assays to capture all pathogenic copy number variants. Adoption of genome sequencing may simplify diagnostic workflows, but further investigational studies will be required to evaluate its clinical efficacy. |
| Databáze: | OpenAIRE |
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