Mutation Forecaster, a Software Resource for Genome-Scale Analysis of Complete Genes and Human Genomes

MarComplete genome sequencing is now feasible, becoming a cost-effective and increasingly essential component of cancer discovery and patient genomic analyses. This has created a bottleneck in interpretation of gene variants, partly because the effects of most variants remain unknown (variants of unknown significance, or VUS). In addition, interpretation is confounded by the lack of corresponding genetic information from closely related family members.

The VUS problem is now exacerbated by the discovery of massive numbers of variants in each genome, many never before seen. Technologies that prune variants in an individual are essential to perform any large-scale gene panel, exome or genome analysis. The variant analysis approaches I will describe improve complete gene and genome sequence analyses by detecting dysregulated biochemical pathways. We stratify variants by mutation severity, which can suggest or exclude particular therapeutic options.