Genomic medicine is the practice of utilizing multi-omic (genomic, transcriptomic, epigenomic) data to improve the diagnosis and treatment of patients. The CBW has developed a 2-day course that will explore various aspects of genomic medicine, covering and teaching popular tools and methods in the field. The course will start with topics that are important to the analysis of genetic disorders, including phenotyping and the annotation of genetic variants. Next, we will cover multi-omic approaches that can be used to identify homogenous clusters of patients, build patient trajectories to identify likely outcomes, and improve these outcomes through better selection of therapies.

Participants will gain practical experience and skills to be able to:

Identify disease variants:
Conduct basic exome analysis to identify disease-causing mutations
Perform deep phenotyping of patients using the Human Phenotype Ontology (HPO)
Conduct detailed variant annotation and prioritization
Perform patient classification:
Understand and select appropriate epigenomic datasets for patient classification
Conduct data fusion to identify homogenous patient subgroups
Identify potential therapies based on molecular profiles