Analysis of in silico tools for evaluating missense variants
NGRL has published a summary report outlining the results of a comparative analysis of in silico tools for the evaluation of missense DNA changes.
There are a number of in silico tools that have been developed to predict the effect of missense variants and some of these tools are used routinely by diagnostic labs to advise clinicians of disease likelihood in the absence of previous evidence. NGRL has built upon existing published analyses of the performance of these tools to provide information that can be used by diagnostic laboratories to guide their use of such resources.
Using variants of known pathogenicity, NGRL has assessed the performance of a range of predictive algorithms in a gene-specific manner. Results indicate that prediction success is largely gene-dependent, but that it is possible to improve predictions for some genes by taking a consensus prediction from three or more tools. An optimum combination of tools for consensus prediction is proposed.
The summary report can be downloaded here >>
The NGRL website contains more detailed information about bioinformatic tools for clinical genetics >>