18 June 2015
The genomics side of the RD-Connect platform already includes over 360 exomes linked to detailed phenotypes stored in PhenoTips using the Human Phenotype Ontology. Exomes have been processed with version one of the RD-Connect standard analysis pipeline for genomics, which exceeds 99% precision and sensitivity when compared to the National Institute of Standards and Technology (NIST) reference set of calls for NA12878. The platform runs on a Hadoop cluster and uses technologies such as ElasticSearch, Postgres, Scala and Angular.js, making it highly configurable and efficient. The exomes can be combined in a very flexible manner and variants can be filtered and prioritized through the user-friendly front-end using the most common quality, genomic location, effect, pathogenicity and population frequency annotations, including CADD and ExAC. Moreover, additional tools can be integrated at the database level or at the interface through API queries. To date, UMD Predictor, DiseaseCard, Alamut Functional Annotation (ALFA) and gene-disease relationships in nanopublication format have been integrated.
The online genomics analysis interface is currently open to beta-testers only, but we look forward to welcoming additional users. Further information about how to contribute data to the platform can here found here.
Please email to register for updates on the platform or further information.