The Genome-Phenome Analyzer is the top-tier product of the Dashboard. It enables you to analyze genomes and even large copy number variations (CNVs) in a clinical context.
It combines the Patient’s Phenotype with genomic results to enable rapid and accurate clinical correlation.
Hypothesis-independent analysis
The analysis is very fast and does not require a hypothesis of the mode of inheritance. It uses pertinence to the Phenotype rather than severity to rank the variants, so there is minimal need for filtering. The tool supports analysis of microarrays and loss of heterozygosity.
*Access to annotated variant tables
To make use of the Genome-Phenome capabilities, you must have access to annotated variant files, not just plain VCFs. While external labs will only share plain VCFs (without a contract change). However, most academic medical centers have those capabilities for some patient results.