seqr - An Open Source Software Platform for Rare Disease Genomics

Learn to navigate and utilize seqr, the Broad Institute's open source software platform designed for rare disease genomics analysis, through this comprehensive 35-minute video series. Master the platform's key functionalities including loading genomic data from AnVIL, managing project pages and phenotype entry systems, conducting advanced variant searches, exploring detailed gene pages, analyzing variant information, integrating with the Genomics Viewer (IGV), and utilizing the Matchmaker Exchange for collaborative rare disease research. Discover how to leverage this powerful genomic analysis tool for identifying disease-causing variants and connecting with researchers worldwide working on similar rare disease cases.