Since the 1st Variant Effect Prediction Training Course (VEPTC) in 2016, Global Variome has held this annual training course as part of its mission to build capacity in the practice of responsible genomics and contribute to improving global health outcomes. Global Variome along with the Human Genome Variation Society (HGVS) have now merged with The Human Genome Organisation (HUGO) International who will continue to offer educational courses and conferences to advance genome science and technology.
This course will be held from the 20th to the 22nd of September 2022 at the University of Nicosia and the Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. An online attendance option will also be available to those unable to attend in person. The course will be a mix of theory and practice presented by invited expert speakers. Practical sessions will be a mix of academic and commercial demonstrations giving course participants experience with genome informatics tools.
We invite you to submit an abstract (but you do not need to) and look forward to your participation at this dynamic event.
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 (human) genetics.
The language of instruction will be ENGLISH.
veptc 2022 will be hybrid
The in-person event will take place at The University of Nicosia, Cyprus. There will also be an option to follow the event online for those attendees who cannot participate in person.
The time-zone used throughout the program is Eastern European Daylight Time (UTC + 3).
Core topics will be delivered live with ample opportunity for Q & A. We wish to deliver a comprehensive program therefore due to time constraints some topics will be delivered as on-demand content.
workshops - In-person attendees
- In-person attendees have the opportunity to attend hands-on interactive workshops with expert speakers who will assist thoughout the workshop.
- This year for the 1st time attendees may select "Basic" or "Advanced" options for "ACMG grading", "UCSC genome browser" and "Ensembl genome browser" workshops. Attendees with good working knowledge are encouraged to select the "Advanced" options, all other attendees should choose the "Basic" option.
workshops - virtual attendees
- Workshops for virtual attendees only will be included in the program. Although these are interactive, the experience will not be the same as the in-person workshops which are a lot more interactive.
- The will be no "Basic" or "Advanced" option workshops, all workshops shall be "Basic/General".
- Variants in the genome, position & possible consequences
- NGS: what method to apply (gene panel, WES or WGS) and where technology fails (inc. CNV & SNV calling)
*^Ensembl Genome Browser
- *^UCSC Genome Browser
- General variant databases: OMIM, dbSNP, ExAC etc.
- Locus Specific Databases
- DNA diagnostics = sharing data
- Potential Consequences on the RNA Level
- RNA analysis: expanding the Dx yield (practice)
- Potential Consequences on the Protein Level
- Functional Testing (protein + RNA)
- Epigenetics - beyond Mendel
- Variant Classification: ACMG recommendations
- EMQN (title TBA)
- *^Discrepancies in Variant grading (inc. cancer)
- *NGS in Diagnostics: where things can go wrong
- Leiden Open Variation Database (LOVD)
- Classification in multifactorial disease
- Whole Exome Sequencing Analysis
- Future Developments
- Other commercial packages
- & more...
scientific organising committee
veptc 2022 may be of interest to:
Molecular diagnostics labs
Medical specialists with interests in genomics
anyone interpreting DNA variants on a regular basis
attend veptc 2022 and you will:
LEARN from distinguished speakers in Plenary & hands-on workshops.
GAIN valuable insights about the best tools for variant interpretation.
HEAR from THE variant nomenclature expert Johan T. den Dunnen.
DISCUSS difficult to classify variants using ACMG recommendations.
FIND OUT how to give correct phenotype using HPO.
GROW as an individual in your profession as you learn about the various tools available to you.
MEET and CONNECT with distinguished human geneticists.
DISCOVER the latest technologies and tools from leading technology companies.