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 SSC, Simons Searchlight and SPARK. Genetic data includes (where applicable) genotyping array, 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.

 

• The SFARI Genomes Browser was developed by SFARI Investigator Monkol Lek and his collaborators at Yale University. The interface allows users to visualize exome and genome sequence data from SSC and SPARK. Designed in a searchable gnomAD-like format, the browser provides annotated lists of SSC and SPARK variants in all genes and allows users to select particular categories of genetic variants to display. The browser also includes gene-level constraint metrics, allele frequencies and links for each gene to outside sources of information such as SFARI Gene, the UCSC Browser, GeneCards and OMIM.