Title |
Molecular diagnostics for hereditary hearing loss in children
|
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Published in |
Expert Review of Molecular Diagnostics, June 2017
|
DOI | 10.1080/14737159.2017.1340834 |
Pubmed ID | |
Authors |
Manou Sommen, Wim Wuyts, Guy Van Camp |
Abstract |
Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in diagnostics allowing to study all known HL genes in a single assay. The diagnostic yield is currently still limited, but has the potential to increase substantially. Areas covered: In this review the utility of NGS and the problems for comprehensive molecular testing for HL are evaluated and discussed. Expert commentary: Different publications have proven the appropriateness of NGS for molecular testing of heterogeneous diseases such as HL. However, several problems still exist, such as pseudogenic background of some genes and problematic copy number variant analysis on targeted NGS data. Another main challenge for the future will be the establishment of population specific mutation-spectra to achieve accurate personalized comprehensive molecular testing for HL. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 32 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 6 | 19% |
Student > Ph. D. Student | 6 | 19% |
Student > Bachelor | 5 | 16% |
Student > Doctoral Student | 2 | 6% |
Other | 2 | 6% |
Other | 3 | 9% |
Unknown | 8 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 12 | 38% |
Biochemistry, Genetics and Molecular Biology | 4 | 13% |
Agricultural and Biological Sciences | 3 | 9% |
Computer Science | 1 | 3% |
Neuroscience | 1 | 3% |
Other | 0 | 0% |
Unknown | 11 | 34% |