A sequencing method that targets only the protein-coding regions of the genome could be used to identify rare and novel disease-causing gene variants, a Nature paper suggests.
Only around 1% of DNA in the human genome codes for proteins, and our understanding of how the rest of it functions is limited. Therefore whole genome sequencing is unlikely to represent the most efficient route for finding disease-related genes, at least for the time being. Jay Shendure and colleagues sequenced only the protein-coding regions or 'exomes' of twelve individuals, including four with a rare dominantly inherited disorder called Freeman-Sheldon syndrome. Using this approach the authors identify rare and common variants in over 300 megabases (Mb) of coding sequence.
The proof-of-concept study demonstrates that exome sequencing of a small number of unrelated individuals can be used to identify candidate genes for single-gene disorders. It is also hoped that the strategy will be extendable to other diseases with more complex inheritance patterns.
Jay Shendure (University of Washington, Seattle, WA, USA)
Abstract available online.
(C) Nature press release.
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