Cambridge, Mass. 19 December 2016 — Today we released Seven Bridges Sonar, an intelligent platform for precision medicine, for Advanced Access users. Sonar allows users to rapidly answer questions spanning genomic and phenomic dimensions and learn from data as it is accumulated.
This Advanced Access version of Sonar focuses extensively on the "Playground" where users can stress-test query functionality within a rich and complex dataset. Somatic variants from the TCGA dataset have been imported from the Genomic Data Commons. This Study comprises more than 11,000 samples with 33 variant parameters and 24 phenotype parameters. Visualizations summarize the distribution of age, gender, race, gene mutation frequency, and gene mutation occurrence.
An intelligent platform for precision medicine
A fundamental challenge of precision medicine is building evidence to distinguish potentially clinically-relevant relationships between observed variants, the corresponding phenotypes, and environmental factors. Currently a single sample is extracted (e.g. biopsy) from a patient and filtered variants are expertly-curated with respect to published datasets and manuscripts. This is useful, but is limited by the quantity and quality of reference databases and also ignores an organization's in-house data. Seven Bridges Sonar shifts this paradigm.
Sonar users focus on Cases (patients) which comprise all genomic and phenomic information formerly spread across files and databases. Once data is imported into Sonar, there's no more Data Housekeeping bottlenecking user analysis. Studies further organize populations of Cases collected for similar research questions with matched metadata. Future versions of Sonar will incorporate tools to tackle data harmonization to allow users to ask questions over multiple Studies.
Exploring the data is as simple as asking a question — Sonar allows users to ask many questions. Questions take the form of Queries within the genome and phenome spaces. These queries allow for logical combinations and can span multiple variants.
Rapid feedback allows users to start with broad queries, see query result distributions, and drill down into more complex queries iteratively
Finally, there will be a toolbox of genomics analysis methods to allow researchers to directly evaluate their initial hypothesis on Seven Bridges Sonar. Some examples would be facilitating GWAS calculations across cohorts or user-customized analysis. This flexibility ensures Sonar will be the platform where questions are rapidly and painlessly refined to hypothesis; these hypotheses are tested accurately and intelligently to provide answers.
Apply for Advanced Access
Users are encouraged to apply for Advanced Access to provide feedback on Seven Bridges Sonar below. We will curate user feedback to further refine our development roadmap and help unleash the power of your data to exceed your organization’s needs.