Concurrent Session 4: ASDG
Tracks
Track 4
Sunday, August 4, 2019 |
1:15 PM - 2:45 PM |
Lion Harbour View 2 (L2) |
Details
Chair: Mr Ben Lundie
Speaker
Dr Miles Benton
Senior Scientist (bioinformatics)
Institute of Environmental Science and Research
A Customisable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next Generation Sequencing Data
1:15 PM - 1:45 PM
Prof Melanie Bahlo
Theme Leader
The Walter and Eliza Hall Institute of Medical Research
Detecting Repeat Expansions with sequencing data: implications for novel discoveries and rapid genetic diagnosis
1:45 PM - 2:00 PM
Dr Benjamin Nash
Senior Scientist
Sydney Children's Hospital Network - Westmead
Whole genome sequencing reveals structural gene rearrangements and novel splicing variants in the retinal dystrophies
2:00 PM - 2:15 PM
Mrs Jo Martindale
Head of Molecular Section
Wellington Regional Genetics Laboratory
Genomics education in the UK: what can we learn?
2:15 PM - 2:30 PM
Ms Nila Quayum
Senior Hospital Scientist
NSW Health Pathology
Quality Control is critical for Genomic Analysis
2:30 PM - 2:45 PM