1st Variant Effect Prediction Training Course (VEPTC) 2019

Country: Russian Federation

City: Moscow

Abstr. due: 28.02.2019

Dates: 29.05.19 — 31.05.19

Area Of Sciences: Biology;

Organizing comittee e-mail: http://veptc.variome.org/contact-us.html

Organizers: The Human Variome Project (HVP)


https://www.google.com/url?sa=t&rct=j&q=... Since the 1st Variant Effect Prediction Training Course (VEPTC) in 2016, The Human Variome Project (HVP) has held yearly training courses in Variant Effect Prediction as part of its mission to build capacity in the practice of responsible genomics and contribute to improving global health outcomes. The HVP focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice.

This genomics course to be held in Moscow 29 - 31 May 2019 with the assistance of the Federal State Budgetary Institution "Research Centre for Medical Genetics", Moscow 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 hands-on experience with genome informatics tools.

We invite you to submit an abstract and to come to learn and participate at this event.  
Who is the Course for?

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.

Participants are Expected to bring thier own laptop.

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


    Variants in the genome, position & possible consequences
    Next Generation Sequencing limitations: sequencing technologies / calling variants
    HGVS Nomenclature; describing variants
    Human Phenotype Ontology (HPO)
    Ensembl Genome Browser
    UCSC Genome Browser
    Variant Effect Predictor
    Variant Annotation Integrator

    General variant databases: OMIM, dbSNP, ExAC etc.
    Locus Specific Databases
    DNA diagnostics = sharing data
    Potential Consequences on the RNA Level
    Potential Consequences on the Protein Level
    RNA Prediction Tools
    Protein Prediction Tools
    Functional Testing: options of functional testing for candidate variants

    Variant Classification: ACMG recommendations
    Copy Number Variants (CNVs from WES)
    NGS in Diagnostics: where things can go wrong
    Leiden Open Variation Database (LOVD)
    Classification in multifactorial disease
    Whole Exome Sequecing Analysis
    Future Developments
    Commercial packages


Conference Web-Site: http://veptc.variome.org/

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