NGS – Genome Variant Analysis

The detection of genetic variation is of major interest in various disciplines spanning from ecology and evolution research to inherited disease discovery and precision oncology. Next generation sequencing (NGS) methods are very powerful for the detection of genomic variants. Thanks to its throughput and cost-efficiency it enables the detection of a large number of variants in a large number of samples. In this two-day course we will cover the steps from read alignment to variant calling and annotation. We will mainly focus on the detection of germline mutations by following the GATK best practices.

At the end of the course participants should be able to:

• Understand important aspects of NGS and read alignment for variant analysis
• Perform a read alignment ready for variant analysis
• Perform variant calling according to GATK best practices
• Perform a variant annotation

This course is currently available free of charge as a self-paced, asynchronous learning experience. All course materials can be accessed at any time via the dedicated GitHub page. However, when the course is offered as a synchronous, instructor-led session through the institute, a registration fee will apply. Registered participants of the instructor-led course will receive specific streaming access and detailed instructions directly from the course organizers. Upon successful participation in the synchronous course, participants will also receive a certificate of participation.

This course is available in English only.