Precision Medicine Dubai 2024 (PMES24)
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Oxford Nanopore are sponsoring, exhibiting and presenting at this event.
The Oxford Nanopore presentation Translating long reads in the clinic will take place on Wednesday 8th May in the afternoon session.
Register below to save your seat.
Please visit us at Booth #B05 if you are able to attend the event.
Speakers
I will briefly present two ONT applications for rare disease diagnostics. The first is a dual-mode PCR-based ONT assay targeting highly homologous genes SMN1 and SMN2 for comprehensive variant analysis supporting SMA diagnostics and screening. The second is a long read whole genome sequencing and methylation assay with an optimized clinical pipeline to prioritize pathogenic variants in patients with rare diseases. We apply this approach to a group of patients, who remain undiagnosed after short read sequencing, and demonstrate the added diagnostic increment, as well as the discovery of novel variation and disease-specific methylation profiles.
I will briefly present two ONT applications for rare disease diagnostics. The first is a dual-mode PCR-based ONT assay targeting highly homologous genes SMN1 and SMN2 for comprehensive variant analysis supporting SMA diagnostics and screening. The second is a long read whole genome sequencing and methylation assay with an optimized clinical pipeline to prioritize pathogenic variants in patients with rare diseases. We apply this approach to a group of patients, who remain undiagnosed after short read sequencing, and demonstrate the added diagnostic increment, as well as the discovery of novel variation and disease-specific methylation profiles.
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Prof. Ahmad Abou Tayoun, Professor, Al Jalila Children's Specialty Hospital and Mohammed Bin Rashid University
