Topic: structural variants

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, Europ

This lecture examines how deletions, duplications and rearrangements of genomic material influence phenotype. Structural variants appear in both clinical and general-population cohorts. Their effects are considered through variable expressivity and through direct or indirect influences on multiple traits.