BiG Talks – Bioinformatics and Genomics Seminar Series
Date: June 11, 10.30-11.30 in Trippelrummet, Navet, SciLifeLab Uppsala and online Title: Genome sequencing of 15,000 healthy elderly Australians: implications for clinical genetics Speaker: Dr. Paul Lacaze, Head of the Public Health Genomics Program, Monash University, Melbourne Australia
The ASPREE Healthy Ageing Biobank contains ~15,000 consented samples from individuals aged 70 years or older participating in the ASPirin in Reducing Events in the Elderly (ASPREE) study – Australia’s largest clinical trial and longitudinal study of healthy ageing. All ASPREE biobank samples are being sequenced using a targeted ‘super-panel’ of 750 genes used commonly in clinical testing, Over 11,500 samples have been sequenced (May 2018), identifying hundreds of actionable pathogenic variants in individuals lacking any apparent signs and symptoms of genetic disease beyond 70 years. Results will be presented on these findings, with implications for our understanding of penetrance and clinical actionability for genes used in routine testing. BiG Talks – Bioinformatics and Genomics seminar series arranged in collaboration with SciLifeLab platforms NBIS, NGI and CG
For more information and to register, please visit the SciLifeLab website.