A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register.
Australas Phys Eng Sci Med
; 39(1): 239-45, 2016 Mar.
Article
em En
| MEDLINE
| ID: mdl-26728880
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
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Bases de Dados Factuais
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Doenças Genéticas Inatas
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Mutação
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article