Ray Rey-Raposo Ph.D. MBA’s Post

Today, Genomics England and Oxford Nanopore Technologies announce collaboration to sequence up to 7500 samples with genetic or suspected genetic disorders. The programme aims to improve outcomes for participants with rare conditions including those without a diagnosis. The study will use nanopore whole genome sequencing for three distinct objectives, to: • uncover new diagnoses in participants who have yet to be diagnosed • finalise genetic characterisation and heritability within families for partially diagnosed participants • identify missed variants and highlight improvements over other methods. This proof-of-concept study will also be of great value in any disease where genetics plays a role, including common diseases, enabling researchers to look easily in the one dataset to study how genetic and epigenetic variation can influence health and disease. Read more: https://bit.ly/46UTMaP #ashg23