Skip to main content

Hands-On Rare Disease Genomic Analysis Workshop 2022

Overview (Content and Syllabus etc)

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.

Targeted Learning Outcomes


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
Coordinator's name
Rolanda Julius
Coordinator's email address
Host H3Africa Project/Organizations/H3Africa Working Group
H3Africa Administrative Coordinating Centre: Enabling and Supporting Genomics and Health Research Capacity Building in Africa
Type of Training/Opportunity
Dates of Event
Wed, Apr 6 to Fri, Apr 8 2022
Name of Venue, Institute
Extra information
To register now, please click ( Registration closes Friday 18 March 21:59 GMT.