NGS - Genome Variant Analysis

11-12 June 2026

Dre Valeria Di Cola, SIB Mme Diana Marek, SIB Dre Sarah Miéville, CUSO Microbiologie

Dr Geert van Geest, SIB

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. The training materials for this course are in its dedicated GitHub page. 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. Prerequisite: 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.

UNIBAS

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