• 12th March 2020

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  • 12th March 2020

This CPD course will provide an introduction to the tools and procedures used in the interpretation of genetic variants in the clinical setting. It is aimed at Consultant Clinical Geneticists, Genetic Counsellors (who have not undertaken STP training), Consultant Histopathologists and other clinicians from mainstream disciplines in the NHS in England. Health Education England has funded the course so there is no fee. You will undertake a blended learning style course which includes completion of online material (nominal duration of one day) before a one day face-to-face course at The University of Manchester. The University of Manchester has extensive experience of delivering high-quality variant interpretation training, gained in our position as the academic provider to the National School of Healthcare Science of the STP Clinical Bioinformatics. By the end of the course participants will be able to: • Describe and apply the skills required to interpret genetic variants • Explain the role of genomic MDT in variant interpretation • Interpret laboratory variant reports • Describe next generation sequencing • Describe genomic versioning and gene transcripts • Use relevant databases, genome browsers, in-silico tools and the Alamut variant analysis software suite • Describe variant prioritisation • Explain and employ the ACGS version of the American College of Medical Genetics variant interpretation guidelines • Describe the importance of phenotyping in variant interpretation and the application of HPO terms Face-to-face courses will take place on 12th and 31st March 2020. You only need to attend one of these days.