In this session Nikolas Pontikos will talk about Pheno4J - a gene to phenotype graph databases created to make it easier to analyze human DNA and genetic mutations. Check it out!
In order to discover the genetic mutation responsible for a rare inherited disease we need to collect DNA and detailed description of clinical features (phenotype) from thousands of patients.
Since each human carries around 4 million genetic mutations and can be described with up to 10 clinical terms, this wealth of data could not be efficiently stored or queried using NoSQL (too much redundancy) or relational (very large join tables) databases.
We therefore developed the Pheno4J software which parses and stores our data into a Neo4J graph database technology, Pheno4J is currently being integrated into our Phenopolis open-source project to offer the rare disease community with a web platform to analyse their data for free.
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Pheno4J: A Gene To Phenotype Graph Database
Nikolas currently postdoc at University College London. He is working on identifying likely causal genetic variants in patients with rare phenotypes.