The Ranomics high-throughput variant synthesis and analysis platform was developed to generate, screen, and determine the functional impact of thousands of missense mutations in well-established disease genes.
We’ve standardized and automated every functional assay for the genes we investigate so we can provide you with reliable, reproducible functional evidence on variants that haven’t yet been seen in either a research or clinical setting.
Ranomics introduces all possible missense mutations into the coding sequence of an indicated gene, allowing us to directly and systematically probe the biological function of every resulting protein variation.
The function of variant in the Ranomics knowledgebase is assayed in a cell line that models an indicated disease or the biological environment of the native protein.
The protein function of each synthesized missense variant is statistically scored and benchmarked against the clinically-validated benign and pathogenic missense variants (from ClinVar) in the gene to which they belong. Each variant is then designated as functional or dysfunctional, based on its score relative to a computationally-derived “loss-of-function” cutoff score.
Once uploaded to the Ranomics knowledgebase, all of our functional evidence is made available for you through our cloud-based search interface, or as an API integration with your lab’s interpretation platform to automatically annotate variants with functional evidence as they are investigated.
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