ASDG SIG Meeting
Tracks
Track 2
| Saturday, August 3, 2019 |
| 9:00 AM - 5:00 PM |
| Frank Taplin Room (L1) |
Details
0900 Welcome |
0910 Session 1: Selected Orals - Chair: Dr Nicole Chia |
1030 Morning Tea |
1100 International Speaker: Dr Richard Scott |
1135 Session 2: Selected Orals - Chair: Prof David Thorburn |
1235 Lunch |
1330 Session 3: Selected Orals - Chair: Prof Edwin Kirk |
1430 Reporting Workshop |
1510 Masters Degree update - Dr Michael Gabbett & MOPS Update - Prof Lyn Griffiths |
1535 Afternoon Tea |
1555-1700 ASDG Annual General Meeting
Speaker
Prof David Thorburn
Group Leader
Murdoch Children's Research Institute
The Role of Prenatal Diagnosis in Prevention of Mitochondrial DNA Disease
9:10 AM - 9:25 AM
Ms Olivia Giouzeppos
Medical Scientis
Victorian Clinical Genetics Services
Post zygotic origin of trisomy as a cause of false-negative NIPT results
9:25 AM - 9:40 AM
Ms Nicola Flowers
Group Leader Nipt
Victorian Clinical Genetics Services
Improved positive predictive value for monosomy X using a cell-free DNA paired-end sequencing assay
9:40 AM - 9:55 AM
Mr Peter Field
Molecular Genetics Supervisor
Virtus Diagnostics - Genetics
Preconception genetic carrier screening in an Australian fertility clinic, the first 1000 patients
9:55 AM - 10:10 AM
Mr Royston Ong
Phd Candidate
Harry Perkins Institute of Medical Research - UWA
Preliminary results of an expanded preconception carrier screening pilot study in Western Australian
10:10 AM - 10:30 AM
Dr Richard Scott
Clinical Lead for Rare Disease
Genomics England
FINDING A NEEDLE IN A HAYSTACK - HOW WE ARE REFINING THE DATA THAT IS GENERATED THROUGH THE UK 100,000 GENOMES PROJECT
11:00 AM - 11:35 AM
Ms Anna Ritchie
Clinical Analyst (Medical Scientist)
Victorian Clinical Genetics Services
Improving the efficiency of variant prioritisation
11:35 AM - 11:50 AM
Dr Natalie Thorne
Lead, Genomics Information Management
Melbourne Genomics Health Alliance
Variant interpretation training for the genomics era: a 5-year comprehensive strategy aiming towards professional competencies
11:50 AM - 12:05 PM
Prof. Leslie Burnett
Conjoint Professor and Visiting Scientist
Garvan Institute of Medical Research, and Virtus Diagnostics
Virtual gene panel analysis has diagnostic yield approaching that of whole genome analysis
12:05 PM - 12:20 PM
Ms Shannon Cowie
Senior Medical Scientist
Victorian Clinical Genetics Services
Whole mitochondrial genome sequencing at VCGS
12:20 PM - 12:35 PM
Mr Dale Wright
Cytogenetics Head
The Children's Hospital at Westmead
Single Nucleotide Polymorphism (SNP) microarray for genome ploidy and gene copy number alterations in paediatric acute lymphoblastic leukaemia (pALL).
1:30 PM - 1:45 PM
Dr Swaroop Aradhya
Head, Global Medical Affairs
Invitae
Mosaicism for sequence and copy number variants in diverse disorders in a large clinical cohort
1:45 PM - 2:00 PM
Dr Simon Sadedin
Head of Clinical Bioinformatics
Victorian Clinical Genetics Services
Challenges and benefits of migrating to the new Genome Build
2:00 PM - 2:15 PM
Dr Miranda Vidgen
Data Governance & Policy Officer
Australian Genomics
Survey of public opinions about sharing genomic data from medical records with researchers
2:15 PM - 2:30 PM
Ms Angela Brown
Head of Oncology Section
Wellington Regional Genetics Laboratory
Reporting Workshop
2:30 PM - 3:10 PM
A/Prof Michael Gabbett
Associate Professor
Queensland University of Technology
Masters Degree update MOPS Update
3:10 PM - 3:35 PM
