Variant Effect Prediction Training Course- Barcelona

This course aims to assist you to: find and use the best tools for variant interpretation using various genome browsers, walk you through HGVS nomenclature with opportunities to discuss difficult to name variants, identify what method to apply and determine where things can go wrong in NGS, classify variants using ACMG classification system and learn recent recommendations, introduce you to Human Phenotype Ontology, (HPO) and learn how HPO´s can help you in variant prioritization, as well as explore topics such as RNA analysis and potential consequences, the mitochondrial genome and more.

Variant Effect Prediction Training Course
2 – 4 Oct. 2023
Barcelona, Spain

2/10/2023 - 4/10/2023

Sign In