Bioinformatics Seminars

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 Fearnley
WEHI 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.

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