Hands-On introduction to NGS variant analysis
General context
This training gives an introduction to the use of several popular NGS analysis software packages.
Using a full publicly available chromosome read-set from one of the 1000 genome samples:
- Perform a complete analysis workflow including QC, read mapping, read coverage analysis, and variant calling against the human reference genome.
- Use GenePattern and open source software to evaluate each step of a classical NGS variant workflow and feel the complexity of the task.
- Quickly compare the obtained results with gold standard public data
The skills acquired during this session should allow participants understand what variant calling implies.
Participants with experience in command line can do the workflow using command line tools.
Skills required to follow this training include basic knowledge of Illumina NGS read structure. People who lack knowledge of Illumina reads should follow the 'Introduction to the analysis of NGS data' training first.
- similar workflow(s) using commercial products like the 'CLC genomics workbench'
- similar workflow(s) using the free Galaxy GUI (although perfectly doable using the acquired knowledge)
- variant analysis at multi-genome level & GWAS (<- advanced computing and statistical expertise required).
- structural variant analysis (large indels, translocations, CNV) as being too complex with no all-in-one tool available.
Trainers
Stéphane Plaisance
Stéphane Plaisance is NGS analysis specialist at the VIB Nucleomics Core in Leuven.
Program
Practical info
20 January 2020 - 21 January 2020
Ghent - iGent
Technologiepark-Zwijnaarde 126
9052 Gent
Belgium
20 January 2020 - 21 January 2020
Ghent - iGent
Several buses drive between Gent Sint-Pieters railway station and Technologiepark: Bus 70, 71 and 72 (‘Tramstraat’)
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Get off at the stop marked 'Bollebergen' at Grote Steenweg Noord.
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Technologiepark is straight in front of you on the other side of the soft verge.
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Walk into the park to the roundabout. You can see the iGent Tower on your left.
Shuttle bus
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The shuttle service between Gent Sint-Pieters and Technologiepark runs every 15 minutes during peak hours (7.30 - 9.30 am and 4.30 - 6.30 pm).
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The site has four stops, including one nearly in front of the iGent Tower (4th stop).
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More info on the Tech Lane Ghent Science Park site.
20 January 2020 - 21 January 2020
Ghent - iGent
You can park your car on the Tech Lane Ghent Science park in the open car parks (no barriers), like the one in front of the iGent tower across the road. These car parks have Dutch signs which read "Parkeren uitsluitend met vignet! (overtreding = wielklem)”. This means you should only park there if you have a valid car park permit. You can request such a permit by sending an email to your contact person at iGent. The permit is only valid for a single day, and will need to be placed visibly behind the car's windscreen.