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.
Please register your interest in attending below to be kept in the loop regarding the registration opening, program etc!
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.
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.
- Sequencing Technologies/New Methods
- Clinical Applications
- Databases/Variation in Population
- Variant Prioritization/Interpretation
- Large Projects
- Froniers of Applications
- Direct to Consumer
- & more...
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
- 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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