Variant interpretation (for CPPD)

Microscopic images of pathogens

This module will equip students with the understanding and skills required to carry out genomic variant classification in a clinical setting. The module will guide students through the process of clinical variant interpretation and the basics of relevant bioinformatics pipelines. It will consider the fundamental principles of variant classification including the variety of evidence used (including population, phenotype, inheritance, predictive and functional data). There will be a focus on how this process is carried out in a clinical setting including an exploration of relevant guidelines, multidisciplinary team working and interpreting genomic variant reports.

For information on other modules, go to the Cambridge Genomic Medicine Programme: modular study

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