1:00pm - 3:00pm
The Genome Analysis Toolkit developed at the Broad Institute, is currently one of the most widely used software toolkits for germline short variant discovery and genotyping in whole genome and exome data. GATK4 is the next generation of GATK; it runs faster and covers more ground, adding somatic SNVs, Indels and CNVs to its variant discovery portfolio. This new version greatly expands the toolkit's scope of action within the variant discovery space by improving somatic mutation calling and adding copy number, structural variant and tumor-heterogeneity analysis tools.
The Broad Institute’s GATK Guru, Geraldine, will demonstrate GATK4’s new features including the somatic variant pipeline.
1:00pm - 5:00pm
A cloud-based, open-source, comprehensive suite of tumor data and analysis tools that offers a ready way for genomics researchers to access data in the cloud, utilize best practices, upload their own data to the cloud for analysis, and share with collaborators. Developed together by the Broad Institute’s Cancer Genome Analysis (CGA) and Data Science and Data Engineering (DSDE) groups, the FireCloud platform offers access to tools focused on using genomic data to gain scientific insights into cancer.
This demonstration will include a full overview of the FireCloud software.