ABSTRACT
BACKGROUND: Recently high-throughput technologies have been massively used alongside clinical tests to study various types of cancer. Data generated in such large-scale studies are heterogeneous, of different types and formats. With lack of effective integration strategies novel models are necessary for efficient and operative data integration, where both clinical and molecular information can be effectively joined for storage, access and ease of use. Such models, combined with machine learning methods for accurate prediction of survival time in cancer studies, can yield novel insights into disease development and lead to precise personalized therapies. RESULTS: We developed an approach for intelligent data integration of two cancer datasets (breast cancer and neuroblastoma) - provided in the CAMDA 2018 'Cancer Data Integration Challenge', and compared models for prediction of survival time. We developed a novel semantic network-based data integration framework that utilizes NoSQL databases, where we combined clinical and expression profile data, using both raw data records and external knowledge sources. Utilizing the integrated data we introduced Tumor Integrated Clinical Feature (TICF) - a new feature for accurate prediction of patient survival time. Finally, we applied and validated several machine learning models for survival time prediction. CONCLUSION: We developed a framework for semantic integration of clinical and omics data that can borrow information across multiple cancer studies. By linking data with external domain knowledge sources our approach facilitates enrichment of the studied data by discovery of internal relations. The proposed and validated machine learning models for survival time prediction yielded accurate results. REVIEWERS: This article was reviewed by Eran Elhaik, Wenzhong Xiao and Carlos Loucera.
Subject(s)
Breast Neoplasms/epidemiology , DNA Copy Number Variations , Genome, Human , Neuroblastoma/epidemiology , Breast Neoplasms/genetics , Computational Biology/methods , Female , Gene Expression Regulation, Neoplastic , Humans , Male , Models, Genetic , Neuroblastoma/genetics , Survival AnalysisABSTRACT
High-throughput technologies, such as next-generation sequencing, have turned molecular biology into a data-intensive discipline, requiring bioinformaticians to use high-performance computing resources and carry out data management and analysis tasks on large scale. Workflow systems can be useful to simplify construction of analysis pipelines that automate tasks, support reproducibility and provide measures for fault-tolerance. However, workflow systems can incur significant development and administration overhead so bioinformatics pipelines are often still built without them. We present the experiences with workflows and workflow systems within the bioinformatics community participating in a series of hackathons and workshops of the EU COST action SeqAhead. The organizations are working on similar problems, but we have addressed them with different strategies and solutions. This fragmentation of efforts is inefficient and leads to redundant and incompatible solutions. Based on our experiences we define a set of recommendations for future systems to enable efficient yet simple bioinformatics workflow construction and execution.
Subject(s)
Computational Biology/methods , Electronic Data Processing/methods , Workflow , High-Throughput Nucleotide Sequencing , Reproducibility of ResultsABSTRACT
This paper presents a study in the domain of semi-automated and fully-automated ontology mapping. A process for inferring additional cross-ontology links within the domain of anatomical ontologies is presented and evaluated on pairs from three model organisms. The results of experiments performed with various external knowledge sources and scoring schemes are discussed.
