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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 end 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 8.30 - 9.00
  • Symposium Opening - 9.00 
  • Welcome Dinner/Event 19.00 - 

Tuesday 14th May

  • Symposium Continues 8.30 - 18.00
  • Conference Dinner 19.00 - We are planning something interesting 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

Draft Program

subject to additions, changes & rearranging!

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
8:30 AM - 9:00 AM
Conference Foyer

Registration

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

Introduction & Welcome

Duration: 10 mins
9:10 AM - 10:00 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
10:00 AM - 10:30 AM
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
10:30 AM - 11:00 AM
Conference Foyer

Coffee Break

Duration: 30 mins
11:00 AM - 11:50 AM
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
11:50 AM - 12:30 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: 40 mins
12:30 PM - 1:00 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
1:00 PM - 2:00 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
2:00 PM - 2:50 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
2:50 PM - 3:10 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced

Duration: 20 mins
3:10 PM - 3:30 PM
Auditorio

RAPID FIRE POSTER PRESENTATIONS

2-3 min presentations from the best posters

Duration: 20 mins
3:30 PM - 3:40 PM

Assemble for Group Photograph

Location to be announced

Duration: 10 mins
3:40 PM - 4:20 PM

Poster Session 1

Odd numbers to present: POS01, POS03 etc.

Duration: 40 mins
4:20 PM - 5:30 PM
Auditorio

Genomic medicine and data-sharing

PANEL DISCUSSION

Moderator TBA

Anna Benet-Pages

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

Christian Gillissen

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

Johan T. den Dunnen

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

Duration: 1.17 hours
5:30 PM - 6:00 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced

Duration: 30 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 RNA sequencing/ cell altlas project/ MARS-seq and SMART-seq

Speaker to be confirmed

Duration: 50 mins
9:20 AM - 10:10 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
10:10 AM - 10:30 AM
Auditorio

PRESENTATIONS FROM ABSTRACTS

To be announced.

Duration: 20 mins
10:30 AM - 11:00 AM
Conference Foyer

Coffee Break

Duration: 30 mins
11:00 AM - 11:50 AM
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
11:50 AM - 12:40 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
12:40 PM - 1:00 PM
Auditorio

PRESENTATIONS FROM ABSTRACTS

Duration: 20 mins
1:00 PM - 2:00 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
2:00 PM - 2:50 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
2:50 PM - 3:40 PM
Auditorio

Deep-learning models for variant prioritisation

PANEL DISCUSSION

Moderator TBA

 

Peter Robinson

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

Andreas Laner

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

To Be Announced

More speakers to be announced when confirmed!

Duration: 50 mins
3:40 PM - 4:20 PM

Poster Session 2

Even numbers to present: POS02, POS04 etc.

Duration: 40 mins
4:20 PM - 4:50 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
4:50 PM - 5:30 PM
Auditorio

Genotype-first approach to identify associations between CDH1 germline va- riants 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
6:30 PM - 10:00 PM

Conference Dinner & Networking

Exact times to be advised.

Duration: 3.5 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 - 10:00 AM
Auditorio

PRESENTATIONS FROM ABSTRACTS

Duration: 50 mins
10:00 AM - 10:30 AM
Auditorio

Epigenetics TBA

To Be Announced

More speakers to be announced when confirmed!

Duration: 30 mins
10:30 AM - 11:00 AM
Conference Foyer

Coffee Break

Duration: 30 mins
11:00 AM - 11:50 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
11:50 AM - 12:40 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
12:40 PM - 1:00 PM
Auditorio

To be Announced

Duration: 20 mins
1:00 PM - 2:00 PM
Restaurant Jardin

Lunch Break & Networking

Duration: 1 hour
2:00 PM - 2:50 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
2:50 PM - 3:40 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
3:40 PM - 4:00 PM
Auditorio

Summary - Closing

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

SYMPOSIUM END

The symposium will end between 16.00 to 17.00 at the very latest.

We reserve this time in case of additions to the program.

Duration: 1 hour

World cafe - think tank session

 

We invite you to send any topics you wish discussed in an open floor format in our World Café session "Think Tank". Please send your ideas before 30th April 2024. The scientific program committee will prepare the best topics in advance and crowdsource via live polling the topics to discuss at the beginning of this session. YOU, vote the topics to discuss. This will be your opportunity to discuss those burning issues, hear solutions from your peers, be exposed to a range of perspectives and experience for yourself a fully immersive conference session format. So make sure you come with your innovation and problem-solvers hat on!

world cafe image

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