Ranomics is building the world's first comprehensive knowledgebase of functionally-characterized genetic variants to help determine their role in disease development and treatment.
Even in the absence of established clinical evidence, knowing the impact that a genetic variant has on its protein’s biological function can provide strong evidence to support classification. By determining the functional impact of every missense variant in known disease-causing genes, we’re equipping clinical laboratories and healthcare organizations with the information they need to accurately assess the pathogenicity of novel and rare variants.
Every variant in the Ranomics knowledgebase is assigned a simple "functional" or "non-functional" designation to provide a uniform nomenclature that you can apply to any standardized classification framework, including the 2015 ACMG/AMP guidelines.
Even if a variant has never been clinically reported or published, Ranomics provides you with evidence that’s acquired in a representative in vitro model of its functional activity, then statistically and clinically validated to ensure accuracy.
Ranomics reduces the time you spend searching PubMed and Google for literature with comprehensive functional evidence on every missense variant in hereditary cancer genes like BRCA1 and TP53, whether novel, rare, or commonly-seen.
The Ranomics knowledgebase gives you access to functional evidence on high, medium, and low-penetrance variants, so your lab can quickly gain gene-specific expertise to increase the breadth and depth of your disease testing areas.
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