Program
We are arranging a wonderful program. This is a draft schedule that may change at a later time however the start time and end times of the symposium will remain the same.
Sunday 12th May - Optional Workshop Day
- Registration: 11.30 - 12.30 (inc. lunch)
- Lectures plus Workshops: 12.30 - 18.00
Monday 13th May
- Registration: 8.00 - 10.30
- Sponsored Company Workshop (included): 8.30 - 10.00
- Official Symposium Opening: 10.30
- Welcome Dinner/Event: 19.00 -
Tuesday 14th May
- Symposium Continues: 8.30 - 17.00
- Conference Dinner: 17.00 - we are planning something wonderful for you!
Wednesday 15th May
- Symposium Continues: 8.30 - 17.00
- Symposium End: 17.00
Draft program subject to small change.
Draft Program - subject to small changes
Registration & Lunch
Grab a bite to eat while you arrive and register for this optional Workshop day.
The ACMG/AMP classification system and SVI recommendations
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
The UCSC Recommended track sets - demonstration
Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Coffee Break
ACMG Variant Classification (Codes) - BASIC
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
HGVS Nomenclature - describing variants
WORKSHOP
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Coffee Break
Gene variant databases & sharing information
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
ACMG Variant Classification (Cases) - ADVANCED
WORKSHOP
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Registration
Sponsored Company Workshop TBC
To be confirmed
Coffee Break
Introduction & Welcome
Genome sequencing in diagnostics
Professor Christian Gilissen's group develops and applies bioinformatics methods to gain insight... More
Importance of phenotypic compatibility and specificity in genomic variant classification
PRESENTATION FROM ABSTRACTS
Lina Basel-Salmon
Rabin Medical Center, Beilinson campus, Israel
Accelerating NGS-based Diagnosis via Accurate ACMG Classification and AI-Assisted Variant Prioritization
Genomize is a sponsor of the 15th International Symposium on Variants in the Genome
Lunch Break & Networking
Clinical application of Long-Read Sequencing
Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More
Beyond the Exome
Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More
Importance of non-coding in whole exome sequencing analysis
Nonacus is a sponsor of the 15th International Symposium on Variants in the Genome
Coffee Break
HPO-based Variant prioritization or clinical use of phenopackets
Peter Robinson studied Mathematics and Computer Science at Columbia University and Medicine at... More
RAPID FIRE POSTER PRESENTATIONS
2-3 min presentations from the best posters
Harnessing the Power of Genomic Data Sharing for Medical Advancements
PANEL DISCUSSION
Moderator:
Johan T. den Dunnen
Leiden Univ. Medical Center, Leiden, Netherlands
Poster Sesssion
Welcome & Networking Event
Time to be confirmed
Single-cell whole-genome haplotyping
A professor Molecular Cytogenetics at the University of Leuven and also faculty member of the... More
PRESENTATIONS FROM ABSTRACTS
To be announced.
To be Announced
Coffee Break
Framework for upcoming ACMG recommendations (ACMG 3.0)
Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Center for... More
ENIGMA Guidelines and impact in clinical application
Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More
PRESENTATIONS FROM ABSTRACTS
Lunch Break & Networking
Gene expression regulation by genetic variants modulates risk to cancer
Vice-Director of the Centre for Biomedical Research at the University of Algarve,... More
PRESENTATIONS FROM ABSTRACTS
To be announced
Enhancing genomic variant interpretation with machine learning models
PANEL DISCUSSION
Moderator:
Andreas Laner
Medizinisch Genetisches Zentrum, Munich, Germany
Assemble for Group Photograph
Location to be announced
Coffee Break
Re-classification of variants of uncertain significance using the ENIGMA Expert Panel classification rules
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes:
a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
C. Oliveira is recognised internationally for her work in E-cadherin/CDH1-related diseases and... More
Conference Dinner & Networking
Exact times to be advised.
Non-coding mutations in human brain disorders
Stefan Barakat, PhD, MD, associate professor, is a clinical geneticist and experimental... More
PRESENTATIONS FROM ABSTRACTS
To be Announced
Coffee Break
Bridging biological cfDNA features and machine learning approaches
Ellen Heitzer
Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria
Multidimensional chromatin profiling of zebrafish pancreas to uncover and in- vestigate disease-relevant enhancers
Vertebrate Development and Regeneration, Group leader Instituto de Investigação e... More
Lunch Break & Networking
Epigenetics TBA
More speakers to be announced when confirmed!
PRESENTATIONS FROM ABSTRACTS
To be announced
Coffee Break
Methods and applications for single-cell and spatial multi-omics
Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven... More
A sea change: from diagnosis to screening
KEYNOTE ADDRESS
Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Center for... More
Summary - Closing
- Summary
- Closing Remarks
- Young Investigator Poster Award