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15th International Symposium on Variants in the Genome

  November 29, 2023  

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.

Workshops will include:

  • Clinical Diagnostics – solving exceptional cases
  • ACMG Variant Classification 

Find ALL the details on the conference website!
Organized by: Human Genome Organisation
Invited Speakers:

Invited Speakers


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

Peter Robinson, Framington CT, USA 


Single-cell RNA sequencing/ cell altlas project/ MARS-seq and SMART-seq (title TBA)

*Holger Heyn, CNAG, Barcelona, Spain


Evidence-based calibration of computational tools for missense variant pathogenicity classification (title TBA)


Update on Framework for new ACMG Recommendations

Leslie Biesecker, NIH, USA


Experiences with Long-Read Sequencing (title TBA)

Alexander Hoischen, Nijmegen, Netherlands


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


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


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 variation in disease (interpretation of variants) 

Speaker TBC


Genome architecture mapping in-situ and the new technology Multiplex-GAM

Speaker TBC


Single cell and spacial multiomics

Speaker TBC


More speakers to be invited...

TBC = To be confirmed 

Deadline for Abstracts: 10th February 2024

Super Earlybird - limited numbers to 31 Dec 2023


Earlybird to  3rd March 2024



E-mail: info@meeting-makers.com
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