Assessment of functional effects of unclassified genetic variants.

  title={Assessment of functional effects of unclassified genetic variants.},
  author={Fergus J. Couch and Lene Juel Rasmussen and Robert Hofstra and Alvaro N. A. Monteiro and Marc S. Greenblatt and Niels de Wind},
  journal={Human mutation},
  volume={29 11},
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… CONTINUE READING

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