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The Human Variome Project

An NGO maintaining operational relations with the United Nations Educational, Scientific and Cultural Organisation (UNESCO)

The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.

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NGS Course in a Diagnostic Setting

University of Sao Paulo

26-29 November 2018

Why join the course?

New next-generation sequencing (NGS) technologies currently allow efficient sequencing of complete human genomes. These technologies have an enormous impact on diagnostic centres replacing many existing molecular and cytogenetic tests. More and more single gene sequencing is
replaced by gene panel sequencing, whole exome sequencing (WES) and whole genome sequencing (WGS). Patients deserve to benefit from these stunning technological developments. The course will focus on the current developments, present current options, mention advantages and disadvantages, highlight ethical issues, show computational demands, discuss variant classification, etc. After the course participants should have a fresh overview of all options, allowing them to make the best choice for the analysis to perform in their diagnostic or research environment. While whole genome sequencing will probably be the ultimate method to apply, for now it is still too costly or, giving the diagnostic question, completely overdone.

What is it about?

• Basics of NGS (introduction, characteristics, methods, platforms, data files and formats, etc.)
• Data analysis, assembly, alignment, variant calling tools.
• WES and WGS pros, cons and secondary findings.
• Desirable and undesirable developments (Ethical, legal and social issues)
• Interpretation of sequence data in terms of clinical relevance.
• And more...

Who is the course for?

This course aims to prepare all the community relevant to this field for innovations in molecular testing. It is intended for people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing, Bioinformaticians, Biomedical researchers, Data Analysts, Geneticists, Clinical geneticists, Molecular geneticists, Molecular biologists, Laboratory specialists, Scientific researchers, Pathologists, Pharmacists, Immunologists and Clinical chemists and in general anyone who is related in any way with genetic tests, since a multidisciplinary and highly collaborative approach is important.

What will you achieve?

By the end of the course, you’ll be able to...
• Understand the molecular principles underlying Next Generation Sequencing (NGS) technologies.
• Use couple of bioinformatics software and tools for basic analysis of NGS data
• Know the challenges created by NGS and be aware of the advantages and limitations of this new technologies.
• Identify appropriate applications of these technologies to clinical scenarios within both the diagnostic and research settings.


Register your interest here

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