Description
In this workshop, we will show how to perform genomic variant interpretation and analysis using OpenCRAVAT, a biologist-friendly open source software framework for the annotation of human genetic variation.
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Learning Objectives:
- Design an analysis workflow for variants identified in human genomes.
- Identify multiple phenotypic consequences of selected rare and common human genetic variants provided by the workshop.
- Evaluate the limits of current tools for genetic variant interpretation.
- Construct a high-throughput workflow to analyze genetic variation in a large case-only cohort.