With the advances in Next Generation Sequencing technologies, the NGS data analysis has become very important and critical task in any lab working in Genomics. Analyzing Big Genomics data (like NGS data) needs very sophisticated tools and computational infrastructure. The tools can be easily made available as most of the tools are open source, but the computation power and expertise needed to use these tools and perform NGS data analysis can become a challenging task.

This exciting and informative hands-on workshop is for professionals in clinical, medical and biomedical genetics who want to learn methodologies for analysis and interpretation of complex dataset generated by next generation sequencing (NGS) technologies. Designed for scientists and clinicians, this online workshop will provide a comprehensive overview of the theory and practical approaches to identifying disease causing variants from NGS data using publicly available computational tools, databases and pipelines. The workshop will also cover methods of assessing pathogenicity of a variant following the ACMG-AMP guidelines. During the workshop, participants will learn to identify disease causing variants from real-world NGS data (targeted gene panel and whole exome sequencing).