Introduction to Genomics

Course Description:

This course is dedicated to the subject of genomics and the use of Next Generation Sequencing as a tool to analyze and understand the information contained within a genome. DNA has a double-stranded structure giving it a stable and therefore suitable molecular structure for information storage. The mechanism of DNA replication and the transcription of expressed genes depend on the code contained within a DNA molecule.  Changes in a genomic sequence can have dramatic consequences on the resulting protein generated when a gene is expressed. In this review, we will be covering topics that include commonly studied DNA variation (substitutions, insertions and deletions) and looking at a few examples of how DNA variation can affect health, disease and treatment. At the end, you will have the option to apply the acquired understanding to one of our prepared projects or a project of your own.

We will also discuss the analytical challenges associated with data preparation, analysis and interpretation of sequencing results. These considerations will be relevant for our next courses where you will use this background to logically evaluate your own sequencing results.

Questions we will try to answer:

• What is DNA variation and what types of variation are there?  
• What DNA elements are being studied for variation?
• What types of genomic information exist and can be analyzed?

Terms to Know:

• Genetics
• Genomics
• Base pair
• Point Mutation (insertion, deletion, and substitution)
• Translocation
• Inversion
• Mutation
• Variant calling
• Germline mutation
• Somatic mutation