London Calling 2023: The Emirati Genome Project: where long reads became an integral part of large genome projects (a first!)

The Emirati Genome Program (EGP) is using genomics to ensure the best healthcare and quality of life for the Emirati population. It will also be an engine for science and knowledge, a key driver of the UAE's development. The EGP will sequence one million Emiratis, the entire population.

The UAE has one of the highest rates of birth defects and the impact of the EGP can already be measured in programs, such as pre-marital screening.

Since its inception, the EGP has used long reads at scale, because of the increased power in structural variants, phasing, methylation, and accuracy. The EGP has sequenced over 80,000 samples with nanopore sequencing, the largest long-read cohort in the world.

This has provided G42 with extensive knowledge on how to use Oxford Nanopore technology at scale, which we will present at London Calling, including the implementation of Dorado (joint work with AWS and Oxford Nanopore Technologies). G42 has recently started analysis on the EGP, and we will present preliminary results on HLA calling, and a population characterization of the Emirati population.