Abstract

Human Copy Number Variations (hCNVs) are the result of structural genomic rearrangements that result in the duplication or deletion of DNA segments. These changes contribute significantly to human genetic variability, diseases, and somatic genome variations in cancer and other diseases. hCNVs can be routinely investigated by genomic hybridisation and sequencing technologies

About This Material

This is a Hands-on Tutorial from the GTN which is usable either for individual self-study, or as a teaching material in a classroom.

Questions this will address

• 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?

Learning Objectives

• Use Control-Freec for hCNV Identefication in tumor tissue.
• Visualise the detected hCNVs in specific chromosomes.