The program will begin with an emphasis on understanding genetic mechanisms of disease. Basic principles of genetics and genomics, such as mitochondrial and nuclear DNA variation and applications of genetic testing modalities are addressed. The course will also cover gene regulation, particularly epigenetics in Mendelian and complex disease. Technical aspects of NGS will be discussed, including sample preparation, assay selection, and sequencing platforms. Foundational topics in bioinformatics will include basecalling, alignment, variant detection, and variant annotation.
Current limitations, such as structural variant detection, will be examined. Advances in precision medicine involving pediatric cancer and clinical pharmacology will be covered. Participants will learn about the use of RNAseq and whole genome bisulfite sequencing to detect differences in expression and methylation, and the importance of controlled study design to generate interpretable data. An introduction to data analysis, for expression, transcript detection, and methylation will be covered in advanced workshops.
The curriculum has a multimodal format.
Lectures and case-based learning: The core concepts of the course will be taught by program faculty. A “flipped classroom” approach will be utilized for select topics: online content will be available for viewing prior to class to minimize in-class didactic lecturing in favor of discussion and interaction through hands-on activities and case based learning.
Invited speakers: One dinner program will be hosted focused on ethical and social aspects of genomic medicine. A keynote style lecture features an esteemed investigator to discuss a current topic or advance in genomics.
Workshops: Hands-on use of variant analysis software and databases will occur across computer-based workshops. Participants will be guided through the analysis process, including short read exome and genome analyses, progressing to long-read HiFi genome analysis; encompassing single nucleotide variants, copy number variants, expansions, methylation, and heteroplasmic mitochondrial variants. A dedicated UCSC Browser training workshop will be hosted.