Laboratory Models of Human Disease

Personalized medicine is the end goal of advances in genomics. Many patients are now able to have their genome sequenced and many, many new human sequence variants are being discovered on a weekly basis. How can these data be analysed to benefit the patient? How can we interpret genomic data to determine if a sequence variant is likely to be pathological or be causative for a specific disease phenotype. This subject will provide students with experience of a pipeline that can be used to analyse genomic variants and a framework for decision-making about the types of laboratory studies that can be utilized to gain further information about a gene and related sequence variants.