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OVERVIEW


Course of NGS in diagnostics 2018

It is a 4-day course on Next Generation Sequencing in São Paulo, Brazil from 26th to 29th November 2018. The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions.

 

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.

 

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