Cartagenia has entered into an agreement with the International Standards for Cytogenomic Arrays (ISCA) Consortium to automate the latter’s CNV (copy number variation) Atlas data acquisition pipeline based on its Bench data-management solution. Labs and hospitals participating in the CNV Atlas effort will now be able to more easily submit genotype and phenotype data to the database hosted at National Center for Biotechnology Information (NCBI), according to the partners.
Bench leverages standard vocabularies based on international recommendations for phenotypic information and translates those to user-friendly interfaces for clinicians to capture clinical information, explains Cartagenia. The platform allows clinical data to be linked to genomic assay results, independent of assay platform vendors.
“By setting up a data-management pipeline based on consensus clinical information sheets linking phenotype and genotype information for submission to NCBI and directly tapping into the diagnostic workflow, Cartagenia has managed to take a crucial step in enabling the community to build independently curated genotype-phenotype resources, which is essential information sources in today’s state-of-the-art genetic counseling practice,” says Laird Jackson, M.D., phenotype working group coordinator for the CNV Atlas project.
One of the central aims of the CNV Atlas project is to capture clinical and phenotype data in a standardized and structured way. The initiative is working to build a database of abnormal regions of the genome that can be used to create a research resource for gene discovery related to human developmental disorders and to build a resource for learning about the clinical and public health impact of CNVs.