epimutacions is a R package to detect epimutations from DNA methylation data. epimutacions will be developed during Europe Biohackathon 2020.
Diagnoses of patients with rare disease is currently performed with tools that tools explore genetic and genomic mutations. Despite the great success of genetics to diagnose these patients, around 60% of the cases still remained undiagnosed. Epimutations, aberrant methylation pattern of contiguous CpGs, can be an underlying cause of undiagnosed patients. However, there are no robust methods to diagnose these aberrations.
Our aim during the Biohackathon is to implement different approaches to detect epimutations in a R package, following Bioconductor guidelines. Thus, we will work on three main directions:
- Implementation of approaches to detect epimutations
- Implementation of plotting and repporting funcionts
- Preparation of documentation.
More information of the background and the rationale can be found in the wiki. A more specific description of the tasks available can be found in the projects tab.
If you are interested in collaborating with our project, you can join us in our channel (5_epimutations) in BioHackEU20 slack.
We are open to implement different approaches to detect epimutations. If you have any idea, we can discuss it via slack or via mail.
In the Biohackathon, we will be focused in writing R code. If you have experienced with R, Bioconductor and/or plotting, feel free to contact us via slack.
We will evaluate the methods implemented in epimutacions in DNA methylation datasets. Collaborations to apply our method to new datasets can be considered.
Team leader: Carlos Ruiz (carlos.ruiza@upf.edu)