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mconomos authored May 30, 2024
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Expand Up @@ -2,12 +2,25 @@ This site contains course materials for SISG Module 17: WGS Data Analysis, June

- **Instructors:** Laura Raffield and Matthew Conomos

## Course Description
This module will provide an introduction to analyzing genotype data generated from whole genome sequencing (WGS). It will focus on extensions of standard GWAS analyses (e.g. rare-variant association tests) and “post-GWAS” follow-up analyses (e.g. conditional analysis, fine-mapping), and how WGS may improve results or be best utilized for these analyses; methods that incorporate variant annotation information will be highlighted.

Methods and examples will be informed by the instructors’ experience in large human genetics consortia (e.g. TOPMed), and, therefore, will focus on analyzing human data, but may be applicable/extendable to other organisms. A basic introduction to cloud computing will be provided, and students will perform hands-on exercises on a genomic analysis cloud platform.

### Learning Objectives
After attending this module, participants will be able to:
1. Understand how to perform association analyses for rare variants measured in WGS data using aggregate tests
2. Access variant annotation resources and understand how to incorporate annotation information into analyses to improve power and inform results
3. Understand the theory of, and how and when to perform, various “post-GWAS” follow-up analyses
4. Leverage multi-ancestry WGS data
5. Appreciate the utility of existing genomic analysis cloud platforms and get hands-on experience with cloud computing on one of these platforms

## Course Format

#### Lectures
### Lectures
Course material will be presented through lectures. Slides for lectures are linked in the schedule below.

#### Exercises
### Exercises
Many of the lectures will be followed with hands-on exercises. Students are encouraged to work through the exercises together. Afterwards, the instructors will walk through the exercises and lead a discussion.

To run the exercises, log into [NHLBI BioData Catalyst powered by Seven Bridges](https://platform.sb.biodatacatalyst.nhlbi.nih.gov) with your username and password -- we will use this platform for live demonstrations during the course.
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