Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders. These studies demonstrate the strengths, limitations and potential of CES in neurology practice.
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Acknowledgements
The authors' work is supported by grants from the Ministry of Health, Labour and Welfare of Japan, Grants-in-Aid for Scientific Research (A and C) from the Japan Society for the Promotion of Science, the Takeda Science Foundation, the fund for Creation of Innovation Centres for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems from the Japan Science and Technology Agency, the Strategic Research Program for Brain Sciences, and a Grant-in-Aid for Scientific Research on Innovative Areas (Transcription Cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan.
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Miyatake, S., Matsumoto, N. Clinical exome sequencing in neurology practice. Nat Rev Neurol 10, 676–678 (2014). https://doi.org/10.1038/nrneurol.2014.213
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DOI: https://doi.org/10.1038/nrneurol.2014.213
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