SFARI Viewer – an online platform to visualize and analyze SFARI genomic data

 
On June 14, 2019, Alistair Ward and Chase Miller introduced SFARI Viewer and showed how this online platform can be used to visualize and analyze SFARI data sets.

About the webinar

A new web-based tool that makes exploring the SSC (Simons Simplex Collection) and SPARK (Simons Foundation Powering Autism Research for Knowledge) data sets accessible to investigators interested in autism research has been developed by Frameshift Genomics in collaboration with the SFARI informatics team. SFARI Viewer is designed to be highly intuitive and user friendly, with the goal of ensuring that all users can explore and get the most out of the SFARI data sets. Investigators can access SFARI Viewer after gaining authorization through SFARI Base.

In this webinar, Alistair Ward and Chase Miller introduced SFARI Viewer and showed how this online platform can be used to visualize and explore the SFARI data sets. By working through several use cases, they demonstrated how an investigator can:

• Use SFARI Base to gain access to SFARI Viewer
• Quickly identify all the phenotypic and quality control data that is available for both the SSC and SPARK
• Visualize these data sets as project-wide distributions using interactive charts
• Use interactive filtering based on phenotypes to generate cohorts of interest
• Visually compare how these distributions vary between the full data set and the generated cohorts. This allows investigators to explore potential genotype-phenotype correlations.
• Explore sequencing and variant data for individual families across genes of interest
• Interrogate specific variants in genes of interest, including an exploration of variant annotations/allele frequency in other databases, such as ClinVar, VEP and gnomAD.

This webinar is of general interest to any researcher who has an interest in exploring the genomic and phenotypic data collected as part of the SSC and SPARK.