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VEPTC 2018

3rd Variant Effect Prediction Training Course 2018

Iskander Puteri, Malaysia
27 - 30 August 2018
The conference ended on 30 August 2018

Important Dates

Abstract Submission Deadline
31st May 2018
Earlybird Deadline
15th June 2018

About VEPTC 2018

VEPTC2018 will held at NUMed, (only 25 Km to Singapore). The course will be a mix of theory and practice presented by invited expert speakers and a few abstract-selected participant contributions.  Discussions and workshops will also be organised for delegates to interact and engage with hands-on practical workshops. Practical sessions will be a mix of academic and commercial demonstrations giving course participants hands-on experience with computational analysis tools. Suited for people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.  Participants are expected to bring their own laptop. See website for details.

Topics

Molecular genetics, Sequencing, Molecular pathology, Genetic mutations, Next-gen sequencing informatics, Variants, Ngs, Phenotype, Mutation detection, Genome, Genome browsers, Bioinfomatics

Call for Papers

Call for Abstracts - Closing date 31st May 2018

Earlybird Registration ends 15th June 2018

LIMITED PLACES AVAILABLE - REGISTER NOW TO SECURE YOUR PLACE!

Scientific Sessions

  • Variants in the genome, position & 
  • possible consequences
  • Limitations from seq. technologies 
  • calling DNA Variants - SNV, CNV, SV
  • HGVS Nomenclature; describing 
  • variants
  • Human Phenotype Ontology (HPO) - 
  • describing phenotypes
  • DNA variants: phenotypes & 
  • databases - OMIM, dbSNP, ExAC, 
  • HGMD, LOVD, ClinVar etc., data 
  • sharing.
  • Variant Classification: ACMG 
  • recommendations
  • Viewing the Data: Ensembl
  • Viewing the Data: UCSC
  • Variant Annotation using VEP
  • Potential Consequences: on the RNA 
  • & Protein Level
  • Prediction Tools: RNA & Protein
  • Functional Testing: lab tests, animal 
  • models ...
  • Genome Browsers: Ensembl & UCSC
  • Future Developments
  • & more...

The 3rd Variant Effect Prediction Course (VEPTC) will be held in Malaysia from 27 - 30 August 2018 at the Newcastle University School of Medicine, near Johor Bahru.  This city is located just 25km from Singapore so is easily accessed.

Much has changed in the last 20 years: the NGS revolution has shifted our focus from technologies for detecting variants in DNA to the evaluation of the possible consequences of sequence variants. Consequently, we shifted the focus of the 3rd VEPTC to Variant Effect Prediction, or "everything that [we] can do to help decide whether a variant has deleterious consequences or not”.

The course will be grouped into plenary sessions, and the lectures given by experts from universities, research institutes, private diagnostic laboratories, and biotech companies. The sessions will be interspersed by presentations from a few selected abstracts and Concurrent Practicals.

The field of genetic diagnostics will continue to change, at least as swiftly as it has in the last decade. Continued development depends on the continuing education and training of professionals and beginners alike. Based on participant feedback and our inspired discussions during the course and at evening events we will once again host this educational event.

Past delegates are from the following disciplines: Molecular Lab. Geneticists, Clinical Geneticists, Genetics Research Labs and Pathology/Diagnostic Labs. 

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