I started the development of Phenopolis.
I worked on the front-end aspect of Phenopolis with a particular focus on improving the user interphase and user experience as well as the general performance of the web application.
I helped construct the website, and developed pubmedBatch, Phenogenon and several other analyses / visualisations in Phenopolis.
I added the unit test and continuous integration framework and reviewed the security and usability of the website.
I developed gene burden tests and run the CNV pipeline (data to be integrated).
I helped integrate the SimReg method for discovering genotype-phenotype associations into phenopolis. SimReg evaluates the evidence of association between ontologically encoded phenotypes and rare alleles in given genes. Where there is strong evidence of association, SimReg also estimates a characteristic phenotype for the disease caused by pathogenic variants.
I have been sequencing patients who have a bone marrow failure syndrome that is clinically and genetically heterogeneous.
We have been trying to identify the genes responsible. Although we have had some success, a significant proportion remain uncharacterised, and we are interesting in novel analysis approaches using the Human Phenotype Ontology.
I entered and curated a large number of phenotypes encoded using the Human Phenotype Ontology
I am an MSc student of the Genetics of Human Disease program at University College London, doing my Masters project on Phenopolis.