Solve more cases by identifying novel candidate genes/variants and validating with instant raw sequence visualization
RareCODE, our rare disease clinical interpretation system enables, users to quickly analyze their data through a clinically intuitive interface. It can identify novel and de novo mutations, provide instant validation through unrivaled raw sequence, and allows custom knowledge base creation.
Shave days from once-tedious workflows, filtering variants by frequency, impact and mode of inheritance. Scan for de novo variants and validate immediately by viewing in raw sequence. Easily toggle between individual case and clinical data collections. Generate provisional reports or review final reports all from within the system.
Our system has proven power for identifying novel variants, thanks to our unique genomic data architecture and a knowledge base including comprehensive, constantly updated key global reference datasets. Perform novel de novo mutation detection while controlling for whole genome or whole exome read-depth and direct analysis of aligned read files, improving both sensitivity and specificity.
Integrate with existing systems and use our ecosystem to collaborate with colleagues and institutions around the world. Leverage full-resolution data without moving big files. Cross-match any prioritized variant to all sequenced patients in your own institution and to your partner institutions and build your own knowledge base.
We offer a full suite of other products and services from patient collection data management, sequencing and secondary analysis. When integrated with our CancerCODE system, we offer an unmatched comprehensive solution.
Run our system in the cloud to get elastic scalability, compliance and the best-in-class security (powered by DNAnexus). Pay only for the compute time and storage you need.
Two sisters, ages 3 and 5, had progressive blindness and deafness. Over many years they had tested negative for many single-gene retinal and hearing disorders. In just 5 minutes using our system our CSO, Dr. Jeffrey Gulcher, analyzed their WGS data for all mutation types, narrowed the search to 423 variants occurring with < 1 % frequency, screened for autosomal recessives and reduced the number to 6 candidates. The top hit identified was SLC52A2 , a duplication of SLC52A3, a gene involved in riboflavin transport not previously known to cause Brown Vialetto Van Laere Syndrome. Dietary supplements to address this hypothesis arrested the progression of the disease in both sisters.
The most comprehensive testing available for inherited rare diseases provides a phenotype-focused clinical report, customized to the needs of our partner institutions around the world and delivered by board-certified clinical geneticists.