Phenopolis

An Open Platform for Harmonization & Analysis of Sequencing & Phenotype Data.
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Core Team

Co-Founder: Dr. Nikolas Pontikos
UCL Genetics Institute; Institute of Ophthalmology, UCL; Moorfields Eye Hospital, London;

I started the development of Phenopolis.

Co-Founder: Ismail Moghul
UCL Cancer Institute;

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.

Dr. Jing Yu
Nuffield Department of Clinical Neurosciences, University of Oxford; John Radcliffe Hospital, Oxford;

I helped construct the website, and developed pubmedBatch, Phenogenon and several other analyses / visualisations in Phenopolis.

Dr. Lucy Withington
RP Fighting Blindness;

I added the unit test and continuous integration framework and reviewed the security and usability of the website.

Contributers

Dr. Cian Murphy
UCL Genetics Institute;

I developed gene burden tests and run the CNV pipeline (data to be integrated).

Daniel Greene
Department of Haematology, University of Cambridge; Medical Research Council Biostatistics Unit, Cambridge;

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.

Dr. Tom Vulliamy
Blizard Institute, Queen Mary University of London;

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.

Dr. Fiona Blanco-Kelly
Institute of Ophthalmology, UCL; Moorfields Eye Hospital, London;

I entered and curated a large number of phenotypes encoded using the Human Phenotype Ontology

Baron Koylass
UCL Genetics Institute;

I am an MSc student of the Genetics of Human Disease program at University College London, doing my Masters project on Phenopolis.

Sajid Mughal
UCL Genetics Institute;

I am a software developer developing a graph database for Phenopolis called Pheno4j. You can read more and view the source code here.