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About isv24

We are excited to welcome you back in-person to the 15th International Symposium of Variants in the Genome. 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!


isv24 will be held at The Axis Vermar Conference & Beach Hotel near Porto, Portugal.

Porto is well-connected by air from most European capital cities.

The old town of Porto is a UNESCO World-Heritage city.

Find out more about Porto here.

isv24 may be of interest to:

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

Expected knowledge - basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and genetics. Although human genetics will be heavily covered at this event it is not limited to human genetics so you may submit abstracts related to other organisms.

The language will be ENGLISH. There will be no translation service.

Check out our past events.


  • Sequencing Technologies/New Methods
  • Clinical Applications
  • Bioinformatics
  • Databases/Variation in Population
  • Variant Prioritization/Interpretation
  • Large Projects
  • Froniers of Applications
  • Direct to Consumer
  • & more...

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


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


More speakers to be invited...


*To be confirmed

Proposed topics

  • Single-cell RNA sequencing/ cell altlas project/ MARS-seq and SMART-seq
  • Long-Read Sequencing (combination of different techniques - PacBio, BioNano)
  • Rapid Genome Sequencing with LongReads - experiences and lessons learned
  • Evidence-based calibration of computational tools for missense variant pathogenicity classification
  • When the NGS pipeline fails: solving exceptional cases
  • CinGen Variant curation expert panel
  • HPO-based Variant prioritization or clinical use of phenopackets 
  • In silico saturation mutagenesis of cancer genes
  • Diagnosing pediatric mitochondrial diseases by whole exome sequencing lessons from 2000 cases
  • Missense constraint - From the ExAC to the complete GnomAD dataset
  • Genomics England
  • Cracking the nuclear code: Visualizing the structures and functions of the human genome
  • From variant to function in human disease genetics
  • & more!

Scientific Program Committee




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