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.

Alistair Ward graduated from the University of Cambridge in 2000 with a master’s in natural sciences. After working for the U.K. government for a few years, he received his Ph.D. in physics from Boston College. A lifelong interest in genetics spurred a move into bioinformatics, and he began pursuing postdoctoral work in the laboratory of Gabor Marth, where he worked on large consortium projects including the 1000 Genomes Project. After becoming a research assistant professor, Ward became a director of research and science at the University of Utah.

Ward is interested in understanding how to extract useful information from complex genomic data and making it accessible to those without extensive computational experience. He co-founded Frameshift in 2005 with Gabor Marth and Chase Miller.

Chase Miller became intrigued by the value and potential of computational tools in the biological sciences, after graduating with a degree in computer science. This interest led him to pursue a Ph.D. in biology in Gabor Marth’s laboratory, where he designed, developed and published some of the first web-based, big-data genomic visualization libraries. One of his most well-known projects, IOBIO, has become a popular set of web applications and tools used by thousands of researchers across the globe.

In addition to his computational work, Miller frequently attends genomic conferences around the world, where he gives numerous talks on the importance of visualization in bioinformatics. His passion for genomics and visualization continues at Frameshift, where he is working to develop novel tools that allow for the analysis of complex genomic data in a way that is easier to understand, work with and share with others.