Structural Variant Detection and Comparison

Detect and interpret genomic alterations of at least 50 bases using short and long reads. Lectures and practical exercises compare assembly-based and reference-mapping workflows, evaluate sequencing and assembly quality, and filter and annotate structural variants. Participants build trio or population VCF datasets, examine mosaic and somatic variation, and prioritise possible functional effects using human-genome examples. Linux and cloud exercises connect raw data processing with interpretation of disease and phenotype associations.

Sessions: 30 November–2 December, 14:00–20:00 daily, Europe/Berlin (CET, UTC+01:00).

Live online training; fee €450. A biology background and familiarity with genomic data formats are expected. Command-line Linux practical work is introduced during the course.