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15th International Symposium on Variants in the Genome

  March 19, 2024  

Human Genome Organisation, Porto, Portugal
12 - 15 May 2024

We are excited to welcome you back in-person to the 15th International Symposium on Variants in the Genome that will be held 13th - 15th May 2024. The symposium will be preceeded on the 12th May by an optional workshop day. This biennial conference (previously known as the Mutation Detection meeting series) focuses on cutting-edge developments for scanning, sequencing, databasing, and bioinformatics analysis of variants in DNA, RNA, and protein. With technology setting the pace, understanding how variants effect the health of an individual has become crucial and is quickly changing the way genomic data is interpreted. This symposium will also give special emphasis to the capabilities and methods for functional testing and classification of genomic variants related to disease.

Invited leading scientists from around the world and speakers invited from submitted abstracts after peer review will present their research in plenary sessions. The meeting will also include interactive workshops on topics related to clinical interpretation of variants, data collection and variation nomenclature; where you can practice your skills with instructional leaders and scientific professionals. The Symposium of Variants in the Genome provides an excellent platform, motivating participants to share knowledge and network with international experts in all areas of human genetics.

We therefore invite you to submit your abstracts as soon as possible, and encourage you to travel to the beautiful UNESCO World Heritage city of Porto, Portugal to learn and participate at this dynamic meeting.

We look forward to welcoming you all in 2024!

Workshop Day

We have organized an optional workshop day on Sunday, May 12th 2024, just before the symposium. Attendees have the flexibility to include this day as part of their symposium registration or opt to attend it separately.

  • The ACMG/AMP classification system and SVI recommendations 
  • The UCSC Recommended track sets - Demonstration
  • ACMG Variant Cases Basic - Workshop
  • HGVS Nomenclature - describing variants - Workshop
  • Gene variant databases & sharing information
  • ACMG Variant Cases Advanced - Workshop

Organized by: Human Genome Organisation
Invited Speakers:

View Program: https://isv.variome.org/program.html


Invited Speakers

HPO-based Variant prioritization or clinical use of phenopackets (title TBA)

Peter Robinson, Framington CT, USA 

Update on Framework for new ACMG Recommendations

Keynote Address: A sea change: from diagnosis to screening

Leslie Biesecker, NIH, USA


Experiences with Long-Read Sequencing (title TBA)

Alexander Hoischen, Nijmegen, Netherlands


ENIGMA guidelines and their impact in clinical application

Sara Gutiérrez-Enríquez, Barcelona, Spain


Single-cell whole-genome haplotyping

Joris Vermeesch, Leuven, Belgium


When the NGS pipeline fails: solving exceptional cases

Johan T. den Dunnen, Leiden, Netherlands


ACMG Variant Classification/Interpretation: solving exceptional cases

Andreas Laner, Munich, Germany


 Genome Sequencing in Diagnostics

Christian Gilissen, Radboud, Netherlands


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, Porto, Portugal


Methods and applications for single cell and spacial multiomics

Thierry Voet, KU, Leuven, Belgium


Germline allelic expression imbalance and cancer risk 

Ana Teresa Maia, Algarve, Portugal


Chromatin profiling and transcription cis-regulation in pancreas

José Bessa, Porto, Portugal


Non-coding mutations in human brain disorders

Tahsin Stefan Barakat, Rotterdam, Netherlands


& more!


Deadline for Abstracts: 31st March 2024 (Poster only)


Earlybird extended to 24th March 2024



E-mail: info@meeting-makers.com
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