Individuals have had access to whole genome sequencing services for some time through companies like Illumina and Knome, but at a cost of several thousand dollars and often the services were geared toward researchers.
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After exclusion of common variants, the authors were able to identify MYH3, which confirms that exome sequencing can be used to identify causal variants of rare disorders.
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They sequenced four individuals with Freeman-Sheldon syndrome (FSS) (OMIM 193700), a rare autosomal dominant disorder known to be caused by a mutation in the gene MYH3.