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Gregory, D. S.

Publications and source records attributed to Gregory, D. S..

2 recordsLinked to original sources

Pheno4J: A Gene To Phenotype Graph Database

SummaryEfficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and querying of large volumes of structured genetic and phenotypic data. This abstracts technical problems away and lets researchers focus on the science rather than the implementation. We have also developed an accompanying webserver with end-points to facilitate querying of the database.\n\nAvailability and ImplementationThe Java code and python code is available at https://github.com/phenopolis/pheno4i\n\nContactn.pontikos@ucl.ac.uk

bioinformatics

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

SummaryPhenopolis is an open-source web server which provides an intuitive interface to genetic and phenotypic databases. It integrates analysis tools which include variant filtering and gene prioritisation based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare disease.\n\nAvailability and ImplementationA demo of the website is available at http://phenopolis.github.io (username: demo, password: demo123). If you wish to install a local copy, souce code and installation instruction are available at https://github.com/pontikos/phenopolis. The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts.\n\nContactn.pontikos@ucl.ac.uk\n\nSupplementary informationhttp://phenopolis.github.io

bioinformatics