During 4-7 April, 2016, in the frame of Tempus MEDGEN project the training program on NGS (New Generation Sequencing) was organized and held at Tel-Aviv University. The training was conducted by Tommaso Pippucci and Pamela Magini form University of Bologna, Italy. The training consisted form lectures and workshops.
The main themes of the training were the following:
- NGS technology and its applications: genomes, exomes and gene panels
- How to evaluate an experiment?
- Visualization of NGS data
- Variant Filtering
- Variant Prioritization
- Inheritance filtering: Mendelian Models
- Recessive and X-linked diseases
- Dominant diseases: families and trios
- Gene Prioritization
- Gene Prioritization
- Incidental findings in exome analysis
- Incidental findings
- Clinical interpretation: the thin red line between research and diagnostics
- Practical workshop on puzzling cases
As a result of training participants gained useful information and knowledge on how to work with NGS and interpret the results which will be important part of their future work. There were opening and closing sessions every day, when participants expressed their thoughts and experiences of the days, and what they took from that particular day.