Since the 1st VEPTC Course in 2016, The Human Variome Project has held yearly training courses in Variant Effect Prediction. The course will be a mix of theory and practice presented by invited expert speakers. Practical sessions will be a mix of academic and commercial demonstrations giving course participants hands-on experience with computational analysis tools.
Topics: genome informatics, genomics, molecular diagnostics, genome browsers, Ensembl, UCSC, HGVS, LOVD, WES, NGS, next generation sequencing, whole genome sequencing, CNVs, copy number variations, variant, variants, mutation, ACMG, classification, interpretation, HPO, human phenotype ontology