Easy Genomics:
Is it really that easy?

Kelsey Florek, PhD, MPH
Senior Genomics and Data Scientist
Wisconsin State Laboratory of Hygiene
September 13, 2023

1. What is Easy Genomics
2. Easy Genomics: Minimal Viable Product (MVP)
3. AWS HealthOmics
4. Demo

Easy Genomics

Easy Genomics

Easy Genomics

Easy Genomics

• The Needs:
  • User accounts and authentication
  • Simple process for uploading and/or submitting genomic sequencing data for analysis
  • Allow users to select and easily configure analyses
  • Access to analytical workflow status and results

1. What is Easy Genomics
2. Easy Genomics: Minimal Viable Product (MVP)
3. AWS HealthOmics
4. Demo

Easy Genomics

Easy Genomics - Minimal Viable Product (MVP)

• 3 user types: super admin, lab admin, user
• supports multiple "labs" with separate workflows and users
• enables data submission through web interface into AWS S3 and automated samplesheet generation
• runs analytical workflows through Nextflow Tower API

1. What is Easy Genomics
2. Easy Genomics: Minimal Viable Product (MVP)
3. AWS HealthOmics
4. Demo

AWS HealthOmics

AWS HealthOmics

• removes the need to configure and manage complex cloud infrastructure involving AWS Batch / EC2
• provides tailored storage for sequence and variant data
• supports Nextflow & WDL workflows
• requires staging workflow containers and data
• challenging workflow configuration
• accessible through API

Easy Genomics - AWS HealthOmics: Proof of Concept (PoC)

Easy Genomics - AWS HealthOmics: Development Roadmap

Easy Genomics - Open Source and Community Driven

1. What is Easy Genomics
2. Easy Genomics: Minimal Viable Product (MVP)
3. AWS HealthOmics
4. Demo

Acknowledgments

Abigail Shockey, PhD

Christopher Jossart, MPH

Dustin Lyfoung, MS