Description
The UCSC Genome Browser has been a workhorse providing data and visualization for genetics research and clinical professionals for more than 20 years. The Browser continues to grow and add new features, and even experienced users frequently disclose that they have missed important innovations. The proposed workshop will feature some of the newest Browser offerings.
We have recently revised our presentations of data important to the interpretation of variants in the clinical context. Working with ClinVar, ClinGen, gnomAD and others, we now make the details of items displayed in the Browser more available via mouseover in the main Browser graphic. In this way, multiple variants in a region can be investigated more quickly, without a required click-through.
We have also implemented a new feature called “Recommended Track Sets” — one each for copy-number variants and single nucleotide variants. Using this feature, users may, from any location in the genome, launch a pre-configured session with important data automatically displayed.
A new data type has been introduced to aid in the display of ClinVar SNV variants with phenotypes in the five clinical classes (pathogenic > benign), simultaneously showing the variant classes and the number of reports of the variant in each class.
We also now display a data track of exon-capture kits from various manufacturers. This allows users to evaluate the coverage of the genome both when choosing kits for use and to assist in the interpretation of whole exome sequencing experiments.
We will also briefly present our coronavirus resources, both as GWAS data on the genome and viral genome data.
Participants should have experience with the Genome Browser and are encouraged to follow along with the presentation on a separate device. Attendees with limited experience with the Browser should view the video tutorials at http://bit.ly/ucscBasics before attending.
