Breast cancer is a heterogeneous disease consisting of a diverse set of genomic mutations and clinical characteristics. The molecular subtypes of breast cancer are closely tied to prognosis and therapeutic treatment options. We investigate using deep graph learning on a collection of patient factors from multiple diagnostic disciplines to better represent breast cancer patient information and predict molecular subtype. Our method models breast cancer patient data into a multi-relational directed graph with extracted feature embeddings to directly represent patient information and diagnostic test results. We develop a radiographic image feature extraction pipeline to produce vector representation of breast cancer tumors in DCE-MRI and an autoencoder-based genomic variant embedding method to map variant assay results to a low-dimensional latent space. We leverage related-domain transfer learning to train and evaluate a Relational Graph Convolutional Network to predict the probabilities of molecular subtypes for individual breast cancer patient graphs. Our work found that utilizing information from multiple multimodal diagnostic disciplines improved the model's prediction results and produced more distinct learned feature representations for breast cancer patients. This research demonstrates the capabilities of graph neural networks and deep learning feature representation to perform multimodal data fusion and representation in the breast cancer domain.

The SPARQL LeftJoin abstract operator is not distributive over Union; this limits the algebraic manipulation of graph patterns, which in turn restricts the ability to create query plans for distributed processing or query optimization. In this paper, we present semQA, an algebraic extension for the SPARQL query language for RDF, which overcomes this issue by transforming graph patterns through the use of an idempotent disjunction operator Or as a substitute for Union. This permits the application of a set of equivalences that transform a query into distinct forms. We further present an algorithm to derive the solution set of the original query from the solution set of a query where Union has been substituted by Or. We also analyze the combined complexity of SPARQL, proving it to be NP-complete. It is also shown that the SPARQL query language is not, in the general case, fixed-parameter tractable. Experimental results are presented to validate the query evaluation methodology presented in this paper against the SPARQL standard to corroborate the complexity analysis and to illustrate the gains in processing cost reduction that can be obtained through the application of semQA.

OBJECTIVES: To develop mechanisms to formulate queries over the semantic representation of cancer-related data services available through the cancer Biomedical Informatics Grid (caBIG). DESIGN: The semCDI query formulation uses a view of caBIG semantic concepts, metadata, and data as an ontology, and defines a methodology to specify queries using the SPARQL query language, extended with Horn rules. semCDI enables the joining of data that represent different concepts through associations modeled as object properties, and the merging of data representing the same concept in different sources through Common Data Elements (CDE) modeled as datatype properties, using Horn rules to specify additional semantics indicating conditions for merging data. Validation In order to validate this formulation, a prototype has been constructed, and two queries have been executed against currently available caBIG data services. DISCUSSION: The semCDI query formulation uses the rich semantic metadata available in caBIG to build queries and integrate data from multiple sources. Its promise will be further enhanced as more data services are registered in caBIG, and as more linkages can be achieved between the knowledge contained within caBIG's NCI Thesaurus and the data contained in the Data Services. CONCLUSION: semCDI provides a formulation for the creation of queries on the semantic representation of caBIG. This constitutes the foundation to build a semantic data integration system for more efficient and effective querying and exploratory searching of cancer-related data.