1st Variant Effect Prediction Training Course (VEPTC) 2019
Country: Russian Federation
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
Conference Web-Site: http://veptc.variome.org/
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