Variant interpretation is at the core of clinical genome analysis. Assessing whether a variant is involved in a disease phenotype informs clinical decision-making. Genome analysts require a deep understanding of genetics and of genomic methods, of the available databases and literature resources. It takes practice to consolidate this information efficiently and effectively, and this experience comes from working through many cases, and from learning with experts in the field. This module offers opportunities to engage with industry experts on technical aspects of variant interpretation and learning from genome analysts who are experts in a range of disease areas. The course includes guest lectures from industry, clinical and research labs who demonstrate their products and their work-flow. Students gain insights into the thought-process of genome analysts, expand their knowledge of field-specific literature on variant interpretation, perform variant analysis at an advanced level, and learn about new and emerging methods that can provide critical information for variant interpretation.
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Career Level
Mid Level