Full course description
You will undertake an online preparatory course then attend a one day face-to-face course on either 12th and 31st March 2020 consisting of tutorials and practical exercises.
The content will include:
- Genomes, genes, transcripts and genome browsers
- Sequencing, variant detection and variant nomenclature
- Variant prioritisation, Human Phenotype Ontology
- Variation databases
- Alamut, in-silico tools, protein sequence conservation
- Interpretation guidelines and MDTs
The course is targeted at Genetic Counsellors (who have not undertaken STP training), Consultant Clinical Geneticists, Consultant Histopathologists and other Clinicians in mainstream specialities, based and working in England.
Please click Enrol and add yourself to the course.