9th Pan Arab Human Genetics Conference

The 9th Pan Arab Human Genetics Conference will be focusing on the challenges and opportunities for genomics in the Arab World.

For the first time since the conference will be virtual and free-to-register conference.

Illumina will be attending the event with a presentation by Dr. David Bentley focused on “Genomes for Genetic Disease Diagnosis”

Advances in DNA sequencing technology are transforming healthcare. Today it is possible to decode a person’s whole genome and return a precise diagnosis of a genetic condition in a few days. Technology development is focused on improving variant calling, developing robust workflows for returning data quickly for utilization in the clinic.  Utilization of PCR-free whole genome sequencing (WGS) data supports detection of complex germline variants, including clinically important copy number variants and repeat expansions.  Diagnostic yield in specific applications has increased dramatically, ranging from 25-70% in neonatal and paediatric intensive care settings.  A nationwide pilot study of 100,000 genomes, carried out in partnership with Genomics England and the National Health Service, England (NHSE) laid the foundations for the recently launched national Genomic Medicine Service (GMS).  The ecosystem for large scale WGS in a clinical context is now being applied in both national and regional situations, enabling effective implementation of WGS for genomic medicine with applications in genetic disease, cancer and the human response to infectious disease.

Presenters:

Dr. David Bentley 
Vice President and Chief Scientist at Illumina