Data analysis tools

DNA analysis. Graphs showing the results of DNA (deoxyribonucleic acid) sequencing.

A number of tools are available to explore data from the Simons Simplex Collection (SSC). 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.

  1. WuXi NextCODE SSC portal is a cloud-based database that allows for the visualization and analysis of whole-exome sequencing data and associated phenotypic data from the SSC. Researchers can apply for training and access to this portal here.

  3. The Genotype and Phenotype in Families tool was developed by SFARI Investigator Ivan Iossifov and his collaborators. This online interface enables users to analyze SSC data (including whole-exome sequencing data, copy number variants and phenotypic data).

  5. 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.
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