The workshop consisted of a series of lectures given by
Dr Anastasis Oulas,
Dr Athina Theodosiou,
Dr Kyriaki Michailidou and
Dr Elena Loizidou.
The speakers covered the following topics:
1. Next Generation Sequencing and Human Variation
2. NGS Data Pre-Processing: From FASTQ to BAM files
3. Variant (SNP & Indel)
4. Discovery stage of the NGS pipeline analysis
5. Copy number variation (CNV) discovery using NGS data
6. Annotation, variant refinement and filtering using current state-of-the-art tools and databases
The attendees had the opportunity to ask many questions during the lectures, they completed a questionnaire for which they were asked to give their suggestions for improving future workshops, and finally they were given a certificate of attendance.