CNV Beacon at Biohackathon Europe 2020
CNV detection software containerisation and benchmarking
For the Biohackathon Europe (Nov 08-22), the hCNV project participates with a "containerisation" project.
Abstract The main objective of this project is to allow an efficient, unbiased and reproducible way to benchmark a set of tools through software containerization. Here we will use Copy Number Variation detection tools as a use-case. Copy Number Variations are mutational events vital for evolution and they play an important role in diseases. Even if CNVs are the most prevalent genetic mutation type, identifying and interpreting them is still a major challenge.