Assessment of functional effects of unclassified genetic variants.

ABSTRACT: Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been extensively characterized at the functional level, few assays based on functional properties of the encoded proteins have been established for the purpose of predicting the contribution of rare inherited variants to disease. Much of the difficulty in establishing predictive functional assays stems from the technical complexity of the assays. However, perhaps the most challenging aspect of functional assay development for clinical testing purposes is the absolute requirement for validation of the sen

SUBMITTER: Couch FJ 

PROVIDER: S-EPMC2771414 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature