A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register

作者：Huynh, Emily^*; De Roach, John; McLaren, Terri; Thompson, Jennifer; Montgomery, Hannah; Kap, Caitlyn; Hoffmann, Ling; Lamey, Tina

来源：Australasian Physical & Engineering Sciences in Medicine, 2016, 39(1): 239-245.

DOI：10.1007/s13246-015-0420-z

• Pathogenicity prediction
• Genetic analysis
• Molecular genetics report
• Inherited retinal disease

The assignment of pathogenicity to variants suspected of causing an inherited retinal disease and the subsequent creation of molecular genetic reports sent to clinical geneticists and ophthalmologists has traditionally been time-consuming and subject to error and ambiguity. The purpose of this paper is to describe a computer-assisted method we have developed for (1) assessment of the predicted pathogenicity of genetic variants identified in patients diagnosed with an inherited retinal disease and (2) the incorporation of these results into the Australian Inherited Retinal Disease Register and DNA Bank's databases, for the production of molecular genetics reports. This method has significantly accelerated the assessment of variant pathogenicity prediction and subsequent patient report generation for the Australian Inherited Retinal Disease Register and DNA Bank, and has reduced the potential for human error. 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.

• 出版日期2016-3