OpenCRAVAT: An Open Source Collaborative Platform for the Annotation of Human Genetic Variation
On Wednesday, January 29, Dr. Kym Pagel will present "OpenCRAVAT: An Open Source Collaborative Platform for the Annotation of Human Genetic Variation."
In this talk, Dr. Pagel will describe OpenCRAVAT, a new open source, scalable decision support system for studying gene variants and gene prioritization. Once installed, both command line and dynamic, user-friendly graphical interfaces allow users to easily download tools from an extensive resource catalog, create customized pipelines, and explore results in a richly detailed viewing environment. OpenCRAVAT is funded through NCI's Informatics Technology for Cancer Research (ITCR) program (1U24CA204817-01).
The Data Science Seminar Series presents talks from innovators in the research and informatics communities both within and outside of NCI.
Kym Pagel, Ph.D., is a postdoctoral fellow at the Karchin Lab in the Department of Biomedical Engineering at Johns Hopkins University. She received a Ph.D. in informatics from Indiana University in 2018. Her previous work consisted of the development and assessment of methods for variant effect prediction.
- PhenoDB, a Phenotypic and Genotypic Data Sharing ToolJune 09, 2023Human Tumor Atlas Network (HTAN) Summer MeetingJune 12, 2023 - June 13, 2023