FRAMESHIFT LABS INC — Department of Health and Human Services SBIR Phase II: 172

Description

The precision medicine initiative coupled with advances in genomic research and diagnostics isleading to vast increases in the volume of genomic data being createdwith some estimates statingit will outstrip the storage requirements of YouTube byEnsuring all this data can becost effectively managedand that experts from the biomedicalinformatics and medical disciplinescan easily collaborate on analysisand interpretation of results is critical for genomic medicineto realise its potentialboth in researchand at the point of careThis proposal will develop an easy to useweb based platform to manage and visualize the vastamounts of genomic data already available and projected to be generatedThis platform will accessdata acrossdistributed file systemsandvia a powerful APIconnect to customers cloudorlocal hardware pipelines and analysis toolsAs companies transfer data to the cloudor use thecloud as an overflow to their internal storagethis data hub will provide uninterrupted dataaccessData will be managed in a highly visual environmentproviding visual analytics of allavailable dataand the ability to generate data subsets using search functionality provided byinteractive charts and standard text searchAutomated data and consistency checks will beperformedand integrated apps built on the IOBIO platform will enable intuitive data analysiswith all results storedand shareable from within this data hubpromoting close collaboration onprojectsRather than being reduced to static reportsor Excel style spreadsheetsresults arestored in the data hub and within these appsThis means that the link between results aresupporting data are never severedsoanalyses can be repeatedreviewedor updated based onmodified assumptions or data with easeThe objective of this proposal is to develop a commercially viable product to make management ofcollaboration onand understanding of genomic data a reality for medical professionals as well asinformatics expertsdiagnosticiansand biomedical researchersReducing the costs associated withgenomic analysis will ensure it can be scaled to support individual focused medicineand beattractive to a wide customer baseThe product is designed for growthwith the addition ofanalysis modules focused on Mendelian disease genetics and oncologyamong othersplanned for thefuture This project will democratize genomic analysis by providing intuitive data managementorganizationdata analyticsand integrated visually driven analysis in a single applicationthatcan be used by experts across the bioinformatics research and the healthcare disciplinesMysimplifying organization andimproving collaborationthis project will reduce the costsassociated with genomic analysiswhile simultaneously improving research results and diagnosticoutcomes