Emily Huynh and colleagues describe a computer-assisted method developed for assessment of the predicted pathogenicity of genetic variants identified in patients diagnosed with an inherited retinal disease and the incorporation of these results into the Australian Inherited Retinal Disease Register and DNA Bank’s databases, for the production of molecular genetics reports. The principles described in this paper may be applied in any situation where genetic variants and patient information are stored in a well-organised database.
Huynh, Emily et al. Australasian Physical & Engineering Sciences in Medicine.
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JOHN GARCIA, Invitae
San Francisco, USA