Pheno4J - a gene to phenotype graph database - Presentation Recording

[Michael Hunger]

Last night, Nikolas Pontikos spoke about Pheno4J - a gene to phenotype graph database created to make it easier to analyze human DNA and genetic mutations.

Abstract:

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 analyze their data for free. 

You can find the recording of the life streamed talk here:

https://www.meetup.com/Neo4j-Online-Meetup/events/240609128/

Thanks a lot to Nikolas for speaking and Mark for hosting,

Cheers, Michael