Title: Developing cloud based analysis of long read sequencing in thalassemia.
About our speaker: Hugh is a Genetic Pathology Registrar at Royal Prince Alfred Hospital in Sydney. Previously he was a postdoctoral computational biologist at The Garvan Institute of Medical Research in Darlinghurst and has a PhD from the Department of Genome Biology at the ANU’s John Curtin School of Medical Research. He is the proud dad of two girls and on weekends is a volunteer surf lifesaver at Tamarama beach.
About the topic: Long read sequencing is showing great promise in characterising genetic variation in difficult to sequence regions such as the globin genes. Variants that cause thalassemia that are difficult to examine using traditional methods, may be resolved using long read sequencing. To implement long read sequencing in diagnostic thalassemia testing, cloud based bioinformatic solutions are required and currently under development.
Негізгі бет Statewide Biobank Seminar Series - Hugh French MD PhD: Cloud computing & next-generation sequencing
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