GNA5920 Advanced case studies in genomics

Using a work-emulation learning approach, you will take your knowledge and skills in the area of human genome variant curation and apply this to advanced clinical cases. You will undergo deep practice of the genome curation process, while being exposed to novel approaches and clinical perspectives. The multidisciplinary nature of genome curation will be highlighted, with the use of simulated variant curation meetings to appreciate the combined impact of sound genetic knowledge, bioinformatic processes, patient circumstances and clinical specialist expertise in the variant classification process. You will also further appreciate that variant curation is an ongoing process, involving further evidence that may be needed to reclassify a given variant. A work-ready approach will be taken to assessment, where you will prepare a skills portfolio from your studies over the semester, along with being assessed using authentic tasks that relate directly to workplace responsibilities. The ethical considerations when performing genomic testing and communicating genetic results will be a consistent theme through the semester.