We actively participated in the "veptc 2024" course in Palermo, Sicily
Colleagues from GHC Genetics laboratory actively participated in the important "Variant effect prediction training course", which took place on 13-16.10.2024 in Palermo, Sicily. The event was organized by the Human Genome Organization (HUGO) and focused on predicting the effects of genomic variants found in patients using sequencing. This course focuses on helping participants to effectively analyse and interpret DNA variants, a crucial task for those involved in genomic diagnostics, such as molecular geneticists, clinical geneticists and laboratory professionals.
The course covered a wide range of topics including:
- Genome browsers and tools such as Ensembl and UCSC, crucial for variant annotation;
- variant classification methods according to ACMG guidelines;
- HGVS nomenclature for variant evaluation;
- Human phenotype ontology (HPO) for variant phenotyping;
- Workshops on RNA analysis, the mitochondrial genome and the use of deep learning applications in variant effect prediction
The course consists of both theoretical and practical sessions with expert lecturers and participants can choose between face-to-face and virtual participation. In-person participants benefit from opportunities for collaborative and hands-on workshops.
