Next generation sequencing technologies have made genotyping a day to day research and diagnostic tool. Genotyping has come all the way from bench-to-bedside. Genetic variants are being used in personalized medicine to identify susceptibility genes, common disease variants and mutations relevant for diagnosis and therapy.
This workshop will cover the use of popular open-source tools and techniques necessary for analyzing variants starting from raw data-quality control. In addition to alignment, variant calling, and annotation, this workshop will walk participants through several advanced variant analysis methods and techniques.