Bioinformatics Seminar
Time: 11AM
Venue: Zoom
21 February 2023
Insights into pathogenic short tandem repeat expansion and variation from 200,000 human whole genome sequences
Liam FearnleyWEHI Population Health and Immunity
Short tandem repeat (STR) expansion has now been implicated in more than fifty human diseases. It is an increasingly frequent variant of interest in investigation of neurodegenerative diseases. Tools such as ExpansionHunter are being integrated into pipelines for processing genomic data, including GATK4-SV and Illumina’s DRAGEN. The UKBiobank is a major observational study of 500,000 individuals that captures detailed information about participants and their health outcomes, along with a host of other data including ‘omics measurements and medical imaging.