A number of tools are available to explore data from the Simons Simplex Collection (SSC), Simons Searchlight and SPARK. Three tools are listed below. We are actively working with investigators to develop additional data analysis and visualization tools and hope to make these resources available to researchers within the coming years.
- The Genotypes and Phenotypes in Families tool was developed by SFARI Investigator Ivan Iossifov and his collaborators. This online interface enables users to analyze genetic and phenotypic data from the SSC, Simons Searchlight and SPARK. Genetic data includes (where applicable) genotyping array, whole-exome and whole-genome sequencing data.
- SFARI Viewer is an online platform that was developed by Frameshift in collaboration with SFARI Investigator Gabor Marth. This tool enables users to visualize and analyze genetic and phenotypic data from the SSC and SPARK in real-time. Genetic data includes whole-exome and whole-genome sequencing data.
- SFARI participates in the Beacon Project, hosted by the Global Alliance for Genomics and Health (GA4GH). A beacon answers questions of the form, “Do you have information about the following mutation?” and responds with either a “Yes” or “No.” SSC data are available in aggregate through the Beacon Network.