NGS - Genome Variant analysis – Introduction to variant analysis (1 of 5)

The video was recorded live during the SIB course “NGS - Genome Variant analysis” streamed on 05-06 September 2023. Target audience: This course is intended for life scientists who are already familiar with general concepts of NGS technologies and want to expand their knowledge and skills on variant analysis. Speaker: Dr. Geert van Geest, SIB Swiss Institute of Bioinformatics The course materials can be found in the dedicated GitHub page: https://sib-swiss.github.io/NGS-varia... . Learning outcomes: Describe the importance of studying variants Define a DNA mutation Illustrate the difference between a somatic mutation and a germline mutation Describe the two major types of small variants: SNPs and INDELs Explain why SNPs are the most used type of variant for genetic research Explain what haplotypes are and how they can capture more genetic information compared to single small variants Any questions about this talk? Contact: Geert van Geest, [email protected] This video is available under the creative commons license CC-BY-4.0