Award of Phase II SBIR from the NHGRI

Frameshift has developed Mosaic: a powerful genomic data management, visualization, and analysis tool. In collaboration with the University of Utah, we are building on Mosaic to develop additional features including a robust variant annotation pipeline, phenotype-based patient matching tools, and longitudinal support for evolving annotation data. This collaborative effort is named Calypso and is currently available to members of the Undiagnosed Diseases Network (UDN) for data generated in that project. The NHGRI has awarded us a Phase II SBIR award to further expand and develop Calypso in a number of key areas: 1) build a cloud-based bioinformatic pipeline to enable raw sequencing data to be processed to annotated VCF files; 2) provide support for structural variation inside Mosaic (both in the variant warehouse, and querying tools in the UI); 3) seamlessly integrate all data from this pipeline into Mosaic; 4) and general additions and improvements to visualization features in Mosaic, among other things. When complete, Frameshift will be able to offer a powerful, end-to-end solution to genomic data management and analysis.