Getting poster data...
Tony Di Sera, Chase Miller, Alistair Ward, Matt Velinder, Yi Qiao, Gabor Marth (University of Utah, Eccles Institute of Human Genetics, Salt Lake City, UT)Gene.iobio is a web based application that analyzes and prioritizes variants in real-time using engaging visualizations. To start work, the analyst specifies the sequence alignment and variant files for the proband or trio. The analyst then compiles a comprehensive list of genes associated with the phenotype or disorder, generated in gene.iobio using Phenolyzer. Next, gene.iobio analyzes the variants in each defined gene, assessing functional impact, clinical significance , allele frequency, and inheritance mode, not only for the canonical transcript, but for all catalogued transcripts of each gene. These analyses are performed in real-time, returning a list of candidate variants in a matter of minutes. By clicking on a gene, the user sees the variants in the same coordinate space as the sequence coverage area chart and the transcript model which highlights any exons showing insufficient coverage. Reported ClinVar variants in the gene under examination can be shown to survey for similar phenotypes in close proximity to a variant of interest. Advanced, ad hoc filtering can be performed on any variant annotation and the gene list can be expanded to a larger search space.