Hands-on for 'Somatic Variant Discovery from WES Data Using Control-FREEC' tutorial

The questions this addresses are:
- What are the specific challenges in locating human Copy Number Variances (hCNVs)?
- How to preprocess the sequenced reads for hCNVs detection?
- How can you detect the hCNVs in/from tumor and normal tissue of the same individual?
- How can you visualise the hCNVs' findings and compare them for specific regions?

The objectives are:
- Use Control-Freec for hCNV Identefication in tumor tissue.
- Visualise the detected hCNVs in specific chromosomes.

Licence: Creative Commons Attribution 4.0 International

Keywords: variant-analysis


Additional information

Target audience: Students

Resource type: hands-on tutorial

Authors: David Salgado, Katarzyna Murat, Khaled Jum'ah, Krzysztof Poterlowicz, Wolfgang Maier

Contributors: David Salgado, Katarzyna Murat, Khaled Jum'ah, Krzysztof Poterlowicz, Wolfgang Maier

Scientific topics: Genetic variation