Projects
In this section you will find an overview of different highlighted projects derived of my work. All of them them revolve around the field of gene-enhancer regulation, with a special focus on how genome structural variants can alter gene-enhancer communication and cause disease. You can find a detailed list of all my scientific publications through my ORCID account.
POSTRE: a tool to predict the pathological effects of human structural variants
Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics which contributes to the frequently observed low genetic diagnostic yields in the clinic. To help to overcome this problem, we have created POSTRE (Prediction Of STRuctural variant Effects). POSTRE identifies DNA structural variants with non-coding pathological consequences, such as, those altering gene-enhancer communication, thanks to considering enhancer and TAD maps from disease relevant cell types. Read POSTRE manuscript here.
