Ranomics provides datasets generated from high-throughput functional studies. We classify all variants, including Variants of Unknown Significance (VUS), through our experimental assays and statistical pipeline. Our datasets are used by clinical labs to evaluate a patient's risk of developing hereditary diseases.
A smart query interface with VCF support to access functional experimental data for the variant(s) in question.
A developer-friendly API for variant interpretation software companies to integrate our functional experimental data to enhance their existing pipeline.
Ranomics has a high-throughput pipeline for generating functional experimental data. Our experimental pipeline involves two major procedures: (1) The generation of all single missense variants of a human disease gene, and (2) Expression of the genetic variants in a disease model system to determine a loss or gain of function for each variant.
Ranomics catalogues the functionality of each genetic variant in our experimental assays. All datasets are benchmarked using validated clinical patient data, which ensures for high clinical sensitivity and specificity.
Ranomics has an accessible database for clinical laboratories to query genetic variants. Users will receive a variant report documenting the “functional score” and pathogenic/benign classification of the variant.
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