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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 

Sponsored Lecture - Nonacus

Importance of non-coding in whole exome sequencing analysis

Sponsored Lecture - Genomize

Accelerating NGS-based Diagnosis via Accurate ACMG Classification and AI-Assisted Variant Prioritization

Draft program subject to small change.

Draft Program - subject to small changes

11:30 AM - 12:30 PM
Conference Foyer

Registration & Lunch

Grab a bite to eat while you arrive and register for this optional Workshop day.

Duration: 1 hour
12:30 PM - 1:30 PM
Auditorio

The ACMG/AMP classification system and SVI recommendations

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1 hour
1:30 PM - 2:00 PM
Auditorio

The UCSC Recommended track sets - demonstration

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Duration: 30 mins
2:00 PM - 2:30 PM
Conference Foyer

Coffee Break

Duration: 30 mins
2:30 PM - 3:15 PM
Auditorio

ACMG Variant Classification (Codes) - BASIC

WORKSHOP

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 45 mins
3:15 PM - 4:00 PM
Auditorio

HGVS Nomenclature - describing variants

WORKSHOP

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 45 mins
4:00 PM - 4:30 PM
Conference Foyer

Coffee Break

Duration: 30 mins
4:30 PM - 5:00 PM
Auditorio

Gene variant databases & sharing information

Johan T. den Dunnen

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Duration: 30 mins
5:00 PM - 6:00 PM
Auditorio

ACMG Variant Classification (Cases) - ADVANCED

WORKSHOP

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 1 hour
8:00 AM - 10:00 AM
Conference Foyer

Registration

Duration: 2 hours
8:30 AM - 10:00 AM
Auditorio

Sponsored Company Workshop TBC

To be confirmed

Duration: 1.5 hours
10:00 AM - 10:30 AM
Conference Foyer

Coffee Break

Duration: 30 mins
10:30 AM - 10:40 AM
Auditorio

Introduction & Welcome

Duration: 10 mins
10:40 AM - 11:30 AM
Auditorio

Genome sequencing in diagnostics

Christian Gillissen

Professor Christian Gilissen's group develops and applies bioinformatics methods to gain insight... More

Duration: 50 mins
11:30 AM - 12:00 PM
Auditorio

Importance of phenotypic compatibility and specificity in genomic variant classification

PRESENTATION FROM ABSTRACTS

Lina Basel-Salmon

Rabin Medical Center, Beilinson campus, Israel

Duration: 30 mins
12:00 PM - 12:30 PM
Auditorio

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

Duration: 30 mins
12:30 PM - 1:30 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
1:30 PM - 2:20 PM
Auditorio

Clinical application of Long-Read Sequencing

Alexander Hoischen

Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More

Duration: 50 mins
2:20 PM - 3:10 PM
Auditorio

Beyond the Exome

Anna Benet-Pages

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator... More

Duration: 50 mins
3:10 PM - 3:40 PM
Auditorio

Importance of non-coding in whole exome sequencing analysis

Nonacus is a sponsor of the 15th International Symposium on Variants in the Genome

Duration: 30 mins
3:40 PM - 4:10 PM
Conference Foyer

Coffee Break

Duration: 30 mins
4:10 PM - 5:00 PM
Auditorio

HPO-based Variant prioritization or clinical use of phenopackets

Peter Robinson

Peter Robinson studied Mathematics and Computer Science at Columbia University and Medicine at... More

Duration: 50 mins
5:00 PM - 5:20 PM
Auditorio

RAPID FIRE POSTER PRESENTATIONS

2-3 min presentations from the best posters

Duration: 20 mins
5:20 PM - 6:10 PM
Auditorio

Harnessing the Power of Genomic Data Sharing for Medical Advancements

PANEL DISCUSSION

Moderator: 

Johan T. den Dunnen

Leiden Univ. Medical Center, Leiden, Netherlands

Duration: 50 mins
6:10 PM - 7:00 PM
Axis Vermar Hotel location to be advised

Poster Sesssion

Duration: 50 mins
7:00 PM - 9:30 PM
Axis Vermar Hotel location to be advised

Welcome & Networking Event

Time to be confirmed

Duration: 2.5 hours
8:30 AM - 9:20 AM
Auditorio

Single-cell whole-genome haplotyping

Joris Vermeesch

A professor Molecular Cytogenetics at the University of Leuven and also faculty member of the... More

Duration: 50 mins
9:20 AM - 10:10 AM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced.

Duration: 50 mins
10:10 AM - 10:40 AM
Auditorio

To be Announced

Duration: 30 mins
10:40 AM - 11:10 AM
Conference Foyer

Coffee Break

Duration: 30 mins
11:10 AM - 12:00 PM
Auditorio

Framework for upcoming ACMG recommendations (ACMG 3.0)

Leslie Biesecker

Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Center for... More

Duration: 50 mins
12:00 PM - 12:50 PM
Auditorio

ENIGMA Guidelines and impact in clinical application

Sara Gutiérrez-Enríquez

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group Dr. Sara... More

Duration: 50 mins
12:50 PM - 1:10 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

Duration: 20 mins
1:10 PM - 2:10 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
2:10 PM - 3:00 PM
Auditorio

Gene expression regulation by genetic variants modulates risk to cancer

Ana Teresa Maia

Vice-Director of the Centre for Biomedical Research at the University of Algarve,... More

Duration: 50 mins
3:00 PM - 3:20 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced

Duration: 20 mins
3:20 PM - 4:10 PM
Auditorio

Enhancing genomic variant interpretation with machine learning models

PANEL DISCUSSION

Moderator:

Andreas Laner

Medizinisch Genetisches Zentrum, Munich, Germany

 

Duration: 50 mins
4:10 PM - 4:20 PM

Assemble for Group Photograph

Location to be announced

Duration: 10 mins
4:20 PM - 4:50 PM
Conference Foyer

Coffee Break

Duration: 30 mins
4:50 PM - 5:20 PM
Auditorio

Re-classification of variants of uncertain significance using the ENIGMA Expert Panel classification rules

Andreas Laner

Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Duration: 30 mins
5:20 PM - 6:00 PM
Auditorio

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

Carla Oliveira

C. Oliveira is recognised internationally for her work in E-cadherin/CDH1-related diseases and... More

Duration: 40 mins
7:00 PM - 10:00 PM

Conference Dinner & Networking

Exact times to be advised.

Duration: 3 hours
8:30 AM - 9:10 AM
Auditorio

Non-coding mutations in human brain disorders

Stefan Barakat

Stefan Barakat, PhD, MD, associate professor,  is a clinical geneticist and experimental... More

Duration: 40 mins
9:10 AM - 9:30 AM
Auditorio

PRESENTATIONS FROM ABSTRACTS

Duration: 20 mins
9:30 AM - 10:00 AM
Auditorio

To be Announced

Duration: 30 mins
10:00 AM - 10:30 AM
Conference Foyer

Coffee Break

Duration: 30 mins
10:30 AM - 11:20 AM
Auditorio

Bridging biological cfDNA features and machine learning approaches

Ellen Heitzer

Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria

Duration: 50 mins
11:20 AM - 12:10 PM
Auditorio

Multidimensional chromatin profiling of zebrafish pancreas to uncover and in- vestigate disease-relevant enhancers

José Bessa

Vertebrate Development and Regeneration, Group leader Instituto de Investigação e... More

Duration: 50 mins
12:10 PM - 1:10 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
1:10 PM - 1:40 PM
Auditorio

Epigenetics TBA

To Be Announced

More speakers to be announced when confirmed!

Duration: 30 mins
1:40 PM - 2:40 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced

Duration: 1 hour
2:40 PM - 3:00 PM
Conference Foyer

Coffee Break

Duration: 20 mins
3:00 PM - 3:50 PM
Auditorio

Methods and applications for single-cell and spatial multi-omics

Thierry Voet

Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven... More

Duration: 50 mins
3:50 PM - 4:40 PM
Auditorio

A sea change: from diagnosis to screening

KEYNOTE ADDRESS

Leslie Biesecker

Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Center for... More

Duration: 50 mins
4:40 PM - 5:00 PM
Auditorio

Summary - Closing

  • Summary
  • Closing Remarks
  • Young Investigator Poster Award
Duration: 20 mins
4:59 PM - 5:00 PM

SYMPOSIUM END

The symposium will end 17.00 at the very latest.

 

Duration: 1 mins

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