For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot–Marie–Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.
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Züchner, S. Whole genome sequencing identifies causal variants in CMT. Nat Rev Neurol 6, 424–425 (2010). https://doi.org/10.1038/nrneurol.2010.108
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DOI: https://doi.org/10.1038/nrneurol.2010.108
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