MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration

• Main Authors: Michael D. Linderman, Leo McElroy, Laura Chang
• Format: Article
• Language: English
• Published: BMC 2019-11-01
• Series: BMC Medical Genomics
• Subjects: Personal Genome analysis; Genomics education; Web application
• Online Access: http://link.springer.com/article/10.1186/s12920-019-0615-3

Abstract Background The complexity of genome informatics is a recurring challenge for genome exploration and analysis by students and other non-experts. This complexity creates a barrier to wider implementation of experiential genomics education, even in settings with substantial computational resources and expertise. Reducing the need for specialized software tools will increase access to hands-on genomics pedagogy. Results MySeq is a React.js single-page web application for privacy-protecting interactive personal genome analysis. All analyses are performed entirely in the user’s web browser eliminating the need to install and use specialized software tools or to upload sensitive data to an external web service. MySeq leverages Tabix-indexing to efficiently query whole genome-scale variant call format (VCF) files stored locally or available remotely via HTTP(s) without loading the entire file. MySeq currently implements variant querying and annotation, physical trait prediction, pharmacogenomic, polygenic disease risk and ancestry analyses to provide representative pedagogical examples; and can be readily extended with new analysis or visualization components. Conclusions MySeq supports multiple pedagogical approaches including independent exploration and interactive online tutorials. MySeq has been successfully employed in an undergraduate human genome analysis course where it reduced the barriers-to-entry for hands-on human genome analysis.