Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.
The rapid advance of gene sequencing technologies has produced an unprecedented rate of discovery of genome variation in humans. A growing number of authoritative clinical repositories archive gene variants and disease phenotypes, yet there are currently many more gene variants that lack clear annotation or disease association. To date, there has been very limited coverage of gene-specific predictors in the literature. Here the evaluation is presented of "gene-specific" predictor models [...]
Author(s): Crockett, David K, Lyon, Elaine, Williams, Marc S, Narus, Scott P, Facelli, Julio C, Mitchell, Joyce A
DOI: 10.1136/amiajnl-2011-000309