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Understanding genetic variation: An integrated personal and population-based Egyptian genome reference

When: September 17, 2020 Time: 3:00 pm

The power of the Human Genome Project was its universality: one genome to represent all humankind. The next challenge is to call the variant in different populations and harness this to improve healthcare outcomes. 

In this webinar, Professor Hauke Busch and Dr. Inken Wohlers from the University of Lübeck share how their team assembled and annotated the first comprehensive North African (Egyptian) reference genome by combining long- and short-read whole-genome sequencing datasets.

Novogene (a market leading sequencing service provider) will also provide an overview of how they collaborated with the team to build the sequencing strategies required to deliver the project.

Not only will this work contribute to the human genome project, it will also be used in future studies to develop cancer tests specifically for the Egyptian population.

Covered in the webinar:

  • How to perform the de novo assembly and genome annotation using long and short-reads
  • What novel genetic ancestry components and population-specific variants are identified in Egyptians
  • How this reference genome will contribute to future precision medicine

Key takeaways:

  • The strengths and weaknesses of using long and short-reads.
  • How combining long and short read sequencing can help you deliver high quality genome information on your research goals.


Webinar Registration

This webinar has been made possible with the kind support of our partner, Novogene. We encourage anyone interested in finding out more about the technology discussed in this webinar to visit their website.



Professor Hauke Busch Professor Hauke Busch, , University of Lübeck

Dr. Inken Wohlers Dr. Inken Wohlers, , University of Lübeck

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