hands-on tutorial

Hands-on for 'Trio Analysis using Synthetic Datasets from RD-Connect GPAP' tutorial

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The questions this addresses are:
- How do you import data from the EGA?
- How to download files with HTSGET in Galaxy?
- How do you pre-process VCFs?
- How do you identify causative variants?

The objectives are:
- Requesting DAC access and importing data from the EGA.
- Pre-process VCFs using regular expressions.
- Use annotations and phenotype information to find the causative variant(s).

Licence: Creative Commons Attribution 4.0 International

Keywords: variant-analysis, cyoa

Target audience: Students

Resource type: hands-on tutorial

Authors: Helena Rasche, Jasper Ouwerkerk, Saskia Hiltemann, Wolfgang Maier

Contributors: Helena Rasche, Jasper Ouwerkerk, Saskia Hiltemann, Wolfgang Maier

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