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The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

1
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
2
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
3
Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Luca Agnelli
Int. J. Mol. Sci. 2021, 22(6), 2943; https://doi.org/10.3390/ijms22062943
Received: 5 February 2021 / Revised: 4 March 2021 / Accepted: 9 March 2021 / Published: 14 March 2021
(This article belongs to the Special Issue Inherited Retinal Diseases)
The identification of pathogenic variants in monogenic diseases has been of interest to researchers and clinicians for several decades. However, for inherited diseases with extremely high genetic heterogeneity, such as hearing loss and retinal dystrophies, establishing a molecular diagnosis requires an enormous effort. In this review, we use these two genetic conditions as examples to describe the initial molecular genetic identification approaches, as performed since the early 90s, and subsequent improvements and refinements introduced over the years. Next, the history of DNA sequencing from conventional Sanger sequencing to high-throughput massive parallel sequencing, a.k.a. next-generation sequencing, is outlined, including their advantages and limitations and their impact on identifying the remaining genetic defects. Moreover, the development of recent technologies, also coined “third-generation” sequencing, is reviewed, which holds the promise to overcome these limitations. Furthermore, we outline the importance and complexity of variant interpretation in clinical diagnostic settings concerning the massive number of different variants identified by these methods. Finally, we briefly mention the development of novel approaches such as optical mapping and multiomics, which can help to further identify genetic defects in the near future. View Full-Text
Keywords: inherited hearing loss; inherited retinal dystrophies; genetic diagnostics; diagnostic yield; next-generation sequencing; third-generation sequencing; variant interpretation inherited hearing loss; inherited retinal dystrophies; genetic diagnostics; diagnostic yield; next-generation sequencing; third-generation sequencing; variant interpretation
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MDPI and ACS Style

de Bruijn, S.E.; Fadaie, Z.; Cremers, F.P.M.; Kremer, H.; Roosing, S. The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. Int. J. Mol. Sci. 2021, 22, 2943. https://doi.org/10.3390/ijms22062943

AMA Style

de Bruijn SE, Fadaie Z, Cremers FPM, Kremer H, Roosing S. The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. International Journal of Molecular Sciences. 2021; 22(6):2943. https://doi.org/10.3390/ijms22062943

Chicago/Turabian Style

de Bruijn, Suzanne E.; Fadaie, Zeinab; Cremers, Frans P.M.; Kremer, Hannie; Roosing, Susanne. 2021. "The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss" Int. J. Mol. Sci. 22, no. 6: 2943. https://doi.org/10.3390/ijms22062943

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