In collaboration with the GREGoR and ClinGen Consortia, we invite you to participate in a three-day virtual workshop, 6-8 April 2022, (9am-12pm EST|2-5pm GMT|2-5pm WAT|3-6pm CAT| 4-7pm EAT. Your time here) on genomic data analysis and clinical interpretation of findings. This workshop will provide both didactic and hands-on sessions with real genomic sequencing data to allow users to learn how to perform analysis using free genomic analysis platforms such as seqr. Attendees will also become familiar with other online genomic resources and learn how to upload their own data in order to access tools on the AnVIL platform. We recommend all individuals attending this hands-on workshop review certain recorded lectures from the H3Africa-ClinGen Workshop hosted in 2021, and these are specified in the expanded agenda.
The course will take place over 3 half days and will be presented online via ZOOM. The intended audience is African rare disease research and clinical laboratory communities. Upon completion of the course, a certificate of attendance will be awarded.
Plenary topics for Day 1 will include:
- Introduction ClinGen and GREGoR
- Introduction to Genome Analysis Resources
- Sequencing and alignment tools
- Using AnVIL
Day 2 will be dedicated to using seqr with break out sessions for tutorials on analysing demo data in seqr
Day 3 will cover topics as below with a concurrent breakout session dedicated to seqr Q&A.
- Solutions to cases (practical exercises from Day 2)
- Assessing Variants in a Known Gene
- Assessing Variants in a Novel Gene