Informatics

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

We developed a framework for aggregating and harmonizing variant interpretations to produce a meta-knowledgebase of 12,856 aggregate interpretations covering 3,437 unique variants in 415 genes... We have developed and hosted a public web interface for exploring the VICC meta-knowledgebase, freely available online at search.cancervariants.org. This interface accesses an ElasticSearch index for the most recent (and continually updated) data of the VICC harmonized knowledgebase. Nature Genetics

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Graph Databases

Exploring Integrative Analysis using the BioMedical Evidence Graph

The analysis of cancer biology data involves extremely heterogeneous datasets including information. Bringing these different resources into a common framework, with a data model that allows for complex relationships as well as dense vectors of features, will unlock integrative analysis. We introduce a graph database and query engine for discovery and analysis of cancer biology, called the BioMedical Evidence Graph (BMEG). JCO Clincal Cancer Informatics

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