Talks and Conferences

KCCG attendance at conferences and seminars

2017

Staff member Role Conference Date
Tudor Groza Invited Speaker

Clinical deep phenotyping and its applications

2017 Biohackathon, Tokyo 10 September 2017
Tudor Groza Invited Speaker

Towards a comprehensive patient data lifecycle in rare disorders

Undiagnosed Diseases Network International Meeting, Stockholm 30-31 August 2017
Mark McCabe Oral Presentation

Gonadotrophin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction

Endocrine Society of Australia Annual Scientific Meeting, Queensland 21 August 2017
Mark Cowley Oral Presentation

Translating cancer genomics to the clinic

Sydney Catalyst International Translational Research Symposium 8 August

2017

Bronwyn Terrill

Oral Presentation
"The more I know about genetics ...": research to inform Australian community conversations about personal genomics

Human Genetics Society of Australasia (HGSA) 41st Annual Scientific Meeting, Brisbane 5-8 August 2017
Lisa Ewans

Oral Presentation
PLOD3 mutations result in a Stickler syndrome-like connective tissue dysplasia

Oral Presentation
Genomic sequencing reanalysis at 12 months boost Mendelian diagnosis and is cost-effective in intellectual disability

Human Genetics Society of Australasia (HGSA) 41st Annual Scientific Meeting, Brisbane 5-8 August 2017
Tanya Dwarte

Oral Presentation
The evolving landscape of genetic counselling in the genomic era

Human Genetics Society of Australasia (HGSA) 41st Annual Scientific Meeting, Brisbane 5-8 August 2017
Marcel Dinger Attendee Human Genetics Society of Australasia (HGSA) 41st Annual Scientific Meeting, Brisbane 5-8 August 2017
Marcel Dinger Invited Speaker

Australian Genomics National Conference, Brisbane 4 August 2017
Marcel Dinger Invited Speaker
Future of bioinformatics: How real-time data analytics, clinical data access, and machine learning are transforming medical research
Bioinformatics Winter School 2017, Brisbane 5 July 2017
Marcel Dinger Invited Speaker 12th International Workshop on Advanced Genomics, Japan 26-29 June 2017
Simon Kocbek Oral Presentation

Extracting disease-phenotype relations from text with disease-phenotype concept recognisers and association rule mining

30th IEEE International Symposium on Computer-based Medical Systems  22-24 June 2017
Marcel Dinger Invited Speaker VIZBI 2017, Sydney 14 June 2017
Marcel Dinger Attendee European Society of Human Genetics Conference 2017, Copenhagen, Denmark 27-30 May 2017
Marcel Dinger Invited Speaker St Vincent's Campus Alumni Dinner, Sydney 19 May 2017

2016

Staff member Role Conference Date
Marcel Dinger

Invited Speaker
Genomics in the Clinic: A revolution for healthcare and medical research

AARNET Annual Staff Meeting, Sydney 9 December 2016
Mark Cowley

Oral Presentation

AussieMit Conference, Sydney 24-27 November 2016
Marcel Dinger

Invited Speaker
Genomics - Impact on Healthcare

Disruption in Healthcare: Pathology Leadership and Innovation Symposium, Sydney 16 November 2016
Marcel Dinger

Invited Workshop
Genomics in the Clinic: A revolution for healthcare and medical research

RCPA Pathology Informatics Seminar, Sydney 9 November 2016
Marcel Dinger

Invited Speaker
Genomics in the Clinic: A revolution for healthcare and medical research

NSW Innovation and Health Symposium, Sydney 28 October 2016
Mark Cowley

Oral Presentation

Poster

Annual Meeting of the American Society of Human Genetics (ASHG), Vancouver Canada 18-22 October 2016
Tudor Groza

Podium Presentation

 

Annual Meeting of the American Society of Human Genetics (ASHG), Vancouver Canada 18-22 October 2016
Tudor Groza

Invited Speaker

4th International Conference on Rare and Undiagnosed Diseases, Tokyo Japan October 2016
Tudor Groza

Invited Speaker

Annual Meeting of the German Association for Gene Diagnostics, Potsdam Germany October 2016
Mark Cowley

Organising Committee

Session Chair

3rd Thomas Ashworth Circulating Tumour Cell (CTC) Symposium, Sydney 21 September 2016
Marcel Dinger

Invited Speaker
Unzipping the genome: How whole genome and transcriptome sequencing are transforming biology and medicine

Faculty of Pharmacy, University of Sydney Guest Speaker Seminar Series, Sydney 16 September 2016
Marcel Dinger

Invited Speaker
Implementation of whole genome sequencing for diagnosis of genetic disease in routine healthcare

Mutation Detection Meeting, Alice Springs 12-14 September 2016
Marcel Dinger

Invited Speaker
Implementation of whole genome sequencing for diagnosis of genetic disease in routine healthcare

Duke-NUS Medical School Seminar, Singapore 8 September 2016
Marcel Dinger

Invited Speaker
Decoding the genome: Application of high-resolution spatiotemporal transcriptomic profiling to decipher genome function

RNA Biology Meeting, Singapore 7-10 September 2016
Marcel Dinger

Invited Speaker
Clinical whole genome sequencing

Medical Grand Rounds, St Vincent's Hospital, Sydney 6 September 2016
Mark Cowley

Invited Oral

DNAnexus Connect Symposium, San Francisco USA 29 August 2016
Mark McCabe

Oral Presentation

ESA-SRB-ANZBMS Conference, Gold Coast 24 August 2016
Marcel Dinger

Invited Speaker
Genetics - Big Data: Genomics and the future healthcare

Bellberry Education Weekend, Adelaide 13 August 2016
Marcel Dinger

Invited Speaker

Genome Gazing: DNA's Science, Art and Personal Impact, Sydney 11 August 2016
Mark Cowley

Poster

Human Genetics Society of Australasia (HGSA) 40th Annual Scientific Meeting, Hobart 6-9 August 2016
Marcel Dinger

Invited Speaker
Integrating the genome and phenome: A new platform in healthcare

Human Genetics Society of Australasia (HGSA) 40th Annual Scientific Meeting, Hobart 6-9 August 2016
Marcel Dinger

Invited Speaker
Kinghorn Centre for Clinical Genomics: Implementing whole genome sequencing into routine healthcare

Towards an Undiagnosed Diseases Program in NSW, Sydney 27 June 2016
Marcel Dinger

Oral Presentation

Digital Innovations for Healthcare of the Future, Sydney 15 June 2016
Marcel Dinger

Attendee

International Clinical Cardiovascular Conference, Brisbane 26-27 May 2016
Marcel Dinger

Invited Speaker
Kinghorn Centre for Clinical Genomics Software Ecosystem

PopSeq Leadership Council, England UK 17 May 2016
Mark Cowley

Oral Presentation
Clinically Accredited WGS as a First Line Diagnostic Test for Patients with Mendelian Disorders

Biology of Genomes, Cold Spring Harbor, NY, USA 14 May, 2016
Marcel Dinger

Invited Speaker
Journeys through space and time: Ultra-high resolution expression profiling of long noncoding RNAs

Mechanisms & Mysteries in Epigenetics Meeting, Sydney 21 April 2016
Warren Kaplan Invited seminar
Genome research of yesterday, today and tomorrow
The Future of High Performance Computing, Canberra Australia 12 April 2016
Kishore Kumar

Oral Presentation
Defining genetic causes of hereditary spastic paraplegia with whole genome sequencing

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Mark Pinese

Oral Presentation
Evaluating whole genome sequencing as a General Purpose Genetic Screen

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Tony Roscioli

Oral Presentation
Clinical validation of a targeted massively parallel sequencing panel for Craniosynostosis

Poster
Next Generation Sequencing in Spinal muscular atrophy syndromes: involvement beyond the anterior horn cell

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Lisa Ewans

Poster
Expanding the clinical phenotype of the novel connective tissue disorder due to variants in the PLOD3 gene

Poster
Genomics in the genetic clinic: An Australian perspective

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Bronwyn Terrill

Oral presentation
Exploring Australian public knowledge and understanding of DNA, genes and genetic testing in the era of personal genomics

Poster
Developing genome science literacy at school: exploring opportunities in the Australian secondary school science curriculum

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Mark Cowley

Oral Presentation
Improved performance of whole genome sequencing detects to SYNGAP1 mutation in siblings with Epilepsy with Myoclonic-Atonic seizures and photosensitivity

Oral Presentation
Developing WGS as a First Line Diagnostic Test for Patients with Mendelian Disorders

Session Chair

 

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Marcel Dinger

Invited Speaker
The extraordinary depth and complexity of the human transcriptome

Invited Speaker
Unzipping the genome: How whole genome and transcriptome sequencing are transforming biology and medicine

Poster
The Medical Genome Reference Bank – whole genome sequencing of 4000 health elderly individuals

Session Chair
The new world of RNA biology: Emerging roles of IncRNAs and RNA odifications

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Tudor Groza

Invited Speaker
Patient Archive: An integrated solution for deep phenotyping of clinical cases

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Andre Minoche

Invited Speaker
Towards clinical accreditation of structural variation calling from HiSeq X genome sequencing data

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Andrew Stone

Exhibitor

13th International Congress of Human Genetics (ICHG), Kyoto Japan 3-7 April 2016
Mark McCabe

Poster
Loss-of-function germline FGFR1 mutation identified in a patient with prolactinoma

Poster
Gonadotrophin suppression in men leads to a reduction in claudin-11 at teh Sertoli cell tight junction

ENDO 2016 Conference, Boston USA 1-4 April 2016
Maria Gonzalez

Exhibitor

Digital Health Show, Sydney Australia 1-3 April 2016
Aaron Statham

Exhibitor

Digital Health Show, Sydney Australia 1-3 April 2016
Joe Copty

Exhibitor

Digital Health Show, Sydney Australia 1-3 April 2016
Kerhan Woo Exhibitor Digital Health Show, Sydney Australia 1-3 April 2016
Kerith-Rae Dias Exhibitor Digital Health Show, Sydney Australia 1-3 April 2016
Stephan Brennan Exhibitor Digital Health Show, Sydney Australia 1-3 April 2016
Marcel Dinger

Invited Speaker
How the genomic revolution is changing everything

Digital Health Show, Sydney Australia 1 April 2016
Stephan Brennan Exhibitor RCPA Pathology Update, Melbourne 26-28 February 2016
Tudor Groza

Invited Speaker

 

 

RCPA Pathology Update, Melbourne 26-28 February 2017
Marcel Dinger

Invited Speaker

RCPA Pathology Update, Pre-Conference Workshop, Melbourne VIC Australia 25 February 2016
Mark McCabe Poster
Loss-of-function germline FGFR1 mutation identified in a patient with prolactinoma
37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Mark Cowley

Session Chair

 

Poster
Developing WGS as a first line diagnostic test for patients with Mendelian Disorders

37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Andre Minoche

Oral Presentation
Towards clinical accreditation of structural variation calling from HiSeq X whole genome sequencing data

37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Mark Pinese

Poster
Evaluating whole -genome sequencing as a general purpose genetic screen

37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Marcel Dinger

Conference Convenor

37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Aaron Statham Exhibitor 37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Joe Copty Exhibitor 37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Andrew Stone Exhibitor 37th Annual Lorne Genome Conference, Lorne VIC Australia 14-17 February 2016
Russell Howard

Invited Speaker

Newborn Screening 50th Anniversary Meeting, Melbournev 10 February 2016
Marcel Dinger

Invited Speaker
Journeys through space and time: Ultra-high resolution expression profiling of long non-coding RNAs

EMBO Workshop: Systems biology of noncoding RNAs, Rehovot Israel 9 February 2016
Tudor Groza

Attendee

OHSU Conference, Portland USA 8-12 February 2016
Velimir Gayevskiy Trainer BPA Cancer Genomics Workshop, Melbourne 8-10 February 2016

2015

Staff member Role Conference Date
Marcel Dinger
Invited seminar
Genomic sequencing at the Kinghorn Centre for Clinical Genomics: Science and Technology
John Curtin School of Medical Research, Canberra Australia 12 February 2015
Marcel Dinger

Invited seminar
Implementing genomic medicine for diagnostics and research

St Vincents Hospital Alumni Symposium, Sydney Australia 13 February 2015
Mark Cowley

Speaker
Illumina WGS Panel

Lorne Genome Conference, Lorne Victoria, Australia 15-17 February 2015
David Miller Speaker
Illumina WGS Panel
Lorne Genome Conference, Lorne Victoria, Australia 15-17 February 2015
Aga Borcz Attendee Lorne Genome Conference, Lorne Victoria, Australia 15-17 February 2015
David Miller Attendee AGBT Conference 2015, Marco Island FL USA 25-28 February 2015
Marcel Dinger Invited speaker
Implementing genomic medicine for diagnostics and research
Precision Cancer Medicine Symposium, Sydney Australia 28 March 2015
Marcel Dinger Invited speaker
Towards ultimate personalisation and precision-implementation of genomic medicine in routine healthcare
Pathology Informatics Summit, Pittsburgh PA USA 5-8 May 2015
Mark Cowley Invited speaker
Current advances in the science of genomic research, and its applications today
Sydney ARCS Scientific Congress 11-12 May, 2015
Tudor Groza Attendee European Society of Human Genetics 2015, Glasgow UK 6-8 June 2015
Tudor Groza Attendee GA4GH Plenary, Amsterdam 9-11 June 2015
Marcel Dinger Attendee Genomics in Clinical Practice Working Group, Sydney Australia 3 July 2015
Mark Cowley Invited speaker
Genome analysis: from bare metal HPC to the cloud
St Vincent's Precinct Education Seminar Series 9 July 2015
Tudor Groza Invited speaker
A Study of Common Disease using the Human Phenotype Ontology
ISMB/ECCB 2015, Dublin Ireland 10-14 July 2015
Tudor Groza Organiser, Phenotype Day ISMB/ECCB 2015, Dublin Ireland 11 July
Velimir Gayevskiy Attendee EBI Cancer Genomics Workshop, London, UK 20-24 July 2015
Velimir Gayevskiy Attendee EBI Train the Trainer Workshop, London, UK 27-28 July 2015
Warren Kaplan Attendee Sydney Catalyst International Translational Cancer Research Symposium 2015, Sydney Australia 27 July 2015
Mark Cowley Attendee Sydney Catalyst International Translational Cancer Research Symposium 2015, Sydney Australia 27 July 2015
Mark Cowley

Speaker

HGSA 39th Annual Scientific Meeting 2015, Perth Australia 8-11 August 2015
Lisa Ewans Speaker HGSA 39th Annual Scientific Meeting 2015, Perth Australia 8-11 August 2015
Tudor Groza Invited speaker HGSA 39th Annual Scientific Meeting 2015, Perth Australia 8-11 August 2015
Bronwyn Terrill

HGSA Education Committee
workshop coordinator: Research Ethics

HGSA 39th Annual Scientific Meeting 2015, Perth Australia 8-11 August 2015
Marcel Dinger Invited speaker UDP Rare Disease Workshop, Perth Australia 13-14 August 2015
Mark Cowley Attendee UDP Rare Disease Workshop, Perth Australia 13-14 August 2015
Tudor Groza Attendee UDP Rare Disease Workshop, Perth Australia 13-14 August 2015
Bronwyn Terrill Invited speaker
Communicating genomics: literacy and the media landscape
Public Health Genomics workshop, University of Melbourne, Melbourne Australia 22 August 2015
Mark McCabe Attendee ESA-SRB Conference 2015, Adelaide Australia 23-26 August 2015
Bronwyn Terrill

Invited speaker
Learning through the 'narcissome': using personal genomic information for education and social science research

University of Melbourne, Melbourne Australia 5 September 2015
Tudor Groza

Invited speaker
Phenotype Ontologies and their role in understanding rare disorders

BioHackathon 2015 Symposium 13 September 2015
Leslie Burnett

Invited speaker 
Genomics in Clinical Practice

Garvan Institute of Medical Research - public lecture 15 September 2015
Mark Cowley

Invited speaker
Tumour genome evolution & rapid turn around whole-genome cancer diagnostics

ComBio15 27 September - 1 October 2015
Tudor Groza

Oral presentation

Oregon Health & Science University 1 October 2015
Marcel Dinger

Invited speaker
Era of genomic medicine: Redefining the relationship between diagnostics and research

2015 NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference, Hyderabad International Convention Centre, Hyderabad, India 1-2 October 2015
Marcel Dinger

Invited speaker
Developing whole genome sequencing as a first line diagnostic test for genetic disease

2015 NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference, Hyderabad International Convention Centre, Hyderabad, India 1-3 October 2015
Tudor Groza

Invited speaker

GA4GH MatchMaker Exchange satellite meeting 6 October 2015
David Miller

Poster
Methods for low-cost and reduced sample volumes for genomic applications

American Society of Human Genetics Annual Meeting (ASHG) 2015 7-10 October 2015
Tudor Groza

Oral presentations
The Human Phenotype Ontology: Semantic unification of common and rare disease

The Monarch Initiative: An open science integrated genotype-phenotype platform for disease and model organism discovery

American Society of Human Genetics Annual Meeting (ASHG) 2015 7-10 October 2015
Mark Cowley

Invited speaker
Whole Genome Sequencing in Clinical Genomics

Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Andre Minoche

Oral presentation
Structural variation calling from HiSeqX whole genome sequencing data in a clinical setting

Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Mark Pinese
Poster
Whole genome vs targeted sequencing: which provides better diagnostic yield for disease-causing variants

Poster
Two orthogonal processes underlie survival of patients with resected pancreatic cancer: a successful application of expression deconvolution

Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Velimir Gayevskiy
Poster
Seave: a comprehensive variant filtration platform for clinical genomics
Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Mark McCabe
Poster
Loss-of-function germline FGFR1 mutation identified in a patient with prolactinoma
Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015

Marcel Dinger

Conference Convenor Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Joe Copty Exhibitor Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Andrew Stone Exhibitor Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Aaron Statham Exhibitor Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Maria Lubka-Pathak Attendee Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
David Miller Poster
Human Whole Genome Sequencing with Low and Ultralow DNA Inputs
Australasian Genomic Technologies Association (AGTA) Conference, Hunter Valley NSW Australia 11-14 October 2015
Leslie Burnett, Mark Cowley Invited speaker
Introduction to NGS technology: from genome to clinical applications
Genomics for Genetic Counsellors workshop, Sydney NSW Australia 15-16 October 2015
Leslie Burnett

Invited speaker
Genetics, Genomics and the future of Laboratory Medicine

Australasian Association of Clinical Biochemists, NSW Branch meeting 20 October 2015
Warren Kaplan

Invited speaker
Affordable, whole genome sequencing will transform healthcare

Big Data and Healthcare Analytics 2015, Sydney NSW Australia

20-21 October 2015

Marcel Dinger

Invited speaker
The Medical Genome Reference Bank: providing the ideal background for the future landscape of genomic research

45 and Up Study annual meeting, 2015, Sydney NSW Australia

12 November 2015

Marcel Dinger

Invited speaker
The impact of genomics on the future of healthcare

Medical Software Industry Association 2015, Melbourne VIC Australia

17 November 2015

Velimir Gayevskiy

Trainer

Bioplatforms Australia Cancer Genomics Workshop, Canberra

17-19 November 2015

Maria Lubka-Pathak

Attendee

Bioplatforms Australia Cancer Genomics Workshop, Canberra

17-19 November 2015

Andrew Stone

Invited speaker
Population-scale human whole genome sequencing: current and future implications for public health

The Genomics Revolution: Impact on Public Health and Medicine – Monash University

19 November 2015

Mark Cowley

Invited Speaker
Variant Calling Workshop

AMSI Bioinfor Summer

9 December 2015

Mark McCabe

Attendee

Software Carpentry Course, Melbourne

14-15 December 2015

Mark Cowley

Presenter
Translating cancer genomics

Genome bioinformatics for clinicians

Clinical Genomics Data Analysis Course, Sydney

14-18 December 2015