The Human Variome Project, University of Sao Paulo, Brazil
26 - 29 November 2018
We are pleased to announce the NGS in Diagnostics Course that will take place at the Institute of Biosciences, University of Sao Paulo, Brazil 26-29 Nov. 2018.
The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions.
NGS technologies currently allow efficient sequencing of complete human genomes which 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).
This course aims to prepare all the community relevant to this field for innovations in molecular testing.
By the end of the course, you'll be able to...
- Understand the molecular principles underlying Next Generation Sequencing (NGS) technologies.
- Use 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 these new technologies.
- Identify appropriate applications of these technologies to clinical scenarios within both the diagnostic and research settings.
- Characteristics of the NGS methods
- Annotation and prioritization of variants
- Whole genome VS whole exome sequencing
- Functional validation of variants
- Targeting gene panels
- Exome sequencing
- Calling variants
- Practical sessions
- and more...