Knowledge Rich Natural Language Queries over Structured Biological Databases

Increasingly, keyword, natural language and NoSQL queries are being used for information retrieval from traditional as well as non-traditional databases such as web, document, image, GIS, legal, and health databases. While their popularity are undeniable for obvious reasons, their engineering is far from simple. In most part, semantics and intent preserving mapping of a well understood natural language query expressed over a structured database schema to a structured query language is still a difficult task, and research to tame the complexity is intense. In this paper, we propose a multi-level knowledge-based middleware to facilitate such mappings that separate the conceptual level from the physical level. We augment these multi-level abstractions with a concept reasoner and a query strategy engine to dynamically link arbitrary natural language querying to well defined structured queries. We demonstrate the feasibility of our approach by presenting a Datalog based prototype system, called BioSmart, that can compute responses to arbitrary natural language queries over arbitrary databases once a syntactic classification of the natural language query is made

Polyflow: a Polystore-compliant mechanism to provide interoperability to heterogeneous provenance graphs

Many scientific experiments are modeled as workflows. Workflows usually output massive amounts of data. To guarantee the reproducibility of workflows, they are usually orchestrated by Workflow Management Systems (WfMS), that capture provenance data. Provenance represents the lineage of a data fragment throughout its transformations by activities in a workflow. Provenance traces are usually represented as graphs. These graphs allows scientists to analyze and evaluate results produced by a workflow. However, each WfMS has a proprietary format for provenance and do it in different granularity levels. Therefore, in more complex scenarios in which the scientist needs to interpret provenance graphs generated by multiple WfMSs and workflows, a challenge arises. To first understand the research landscape, we conduct a Systematic Literature Mapping, assessing existing solutions under several different lenses. With a clearer understanding of the state of the art, we propose a tool called Polyflow, which is based on the concept of Polystore systems, integrating several databases of heterogeneous origin by adopting a global ProvONE schema. Polyflow allows scientists to query multiple provenance graphs in an integrated way. Polyflow was evaluated by experts using provenance data collected from real experiments that generate phylogenetic trees through workflows. The experiment results suggest that Polyflow is a viable solution for interoperating heterogeneous provenance data generated by different WfMSs, from both a usability and performance standpoint.Muitos experimentos científicos são modelados como workflows (fluxos de trabalho). Workflows produzem comumente um grande volume de dados. De forma a garantir a reprodutibilidade desses workflows, estes geralmente são orquestrados por Sistemas de Gerência de Workflows (SGWfs), garantindo que dados de proveniência sejam capturados. Dados de proveniência representam o histórico de derivação de um dado ao longo da execução do workflow. Assim, o histórico de derivação dos dados pode ser representado por meio de um grafo de proveniência. Este grafo possibilita aos cientistas analisarem e avaliarem resultados produzidos por um workflow. Todavia, cada SGWf tem seu formato proprietário de representação para dados de proveniência, e os armazenam em diferentes granularidades. Consequentemente, em cenários mais complexos em que um cientista precisa analisar de forma integrada grafos de proveniência gerados por múltiplos workflows, isso se torna desafiador. Primeiramente, para entender o campo de pesquisa, realizamos um Mapeamento Sistemático da Literatura, avaliando soluções existentes sob diferentes lentes. Com uma compreensão mais clara do atual estado da arte, propomos uma ferramenta chamada Polyflow, inspirada em conceitos de sistemas Polystore, possibilitando a integração de várias bases de dados heterogêneas por meio de uma interface de consulta única que utiliza o ProvONE como schema global. Polyflow permite que cientistas submetam consultas em múltiplos grafos de proveniência de maneira integrada. Polyflow foi avaliado em conjunto com especialistas usando dados de proveniência coletados de workflows reais que apoiam o estudo de geração de árvores filogenéticas. O resultado da avaliação mostrou a viabilidade do Polyflow para interoperar semanticamente dados de proveniência gerado por distintos SGWfs, tanto do ponto de vista de desempenho quanto de usabilidade

BiologicalNetworks 2.0 - an integrative view of genome biology data

Abstract Background A significant problem in the study of mechanisms of an organism's development is the elucidation of interrelated factors which are making an impact on the different levels of the organism, such as genes, biological molecules, cells, and cell systems. Numerous sources of heterogeneous data which exist for these subsystems are still not integrated sufficiently enough to give researchers a straightforward opportunity to analyze them together in the same frame of study. Systematic application of data integration methods is also hampered by a multitude of such factors as the orthogonal nature of the integrated data and naming problems. Results Here we report on a new version of BiologicalNetworks, a research environment for the integral visualization and analysis of heterogeneous biological data. BiologicalNetworks can be queried for properties of thousands of different types of biological entities (genes/proteins, promoters, COGs, pathways, binding sites, and other) and their relations (interactions, co-expression, co-citations, and other). The system includes the build-pathways infrastructure for molecular interactions/relations and module discovery in high-throughput experiments. Also implemented in BiologicalNetworks are the Integrated Genome Viewer and Comparative Genomics Browser applications, which allow for the search and analysis of gene regulatory regions and their conservation in multiple species in conjunction with molecular pathways/networks, experimental data and functional annotations. Conclusions The new release of BiologicalNetworks together with its back-end database introduces extensive functionality for a more efficient integrated multi-level analysis of microarray, sequence, regulatory, and other data. BiologicalNetworks is freely available at http://www.biologicalnetworks.org

A Semantic Problem Solving Environment for Integrative Parasite Research: Identification of Intervention Targets for Trypanosoma cruzi

Effective research in parasite biology requires analyzing experimental lab data in the context of constantly expanding public data resources. Integrating lab data with public resources is particularly difficult for biologists who may not possess significant computational skills to acquire and process heterogeneous data stored at different locations. Therefore, we develop a semantic problem solving environment (SPSE) that allows parasitologists to query their lab data integrated with public resources using ontologies. An ontology specifies a common vocabulary and formal relationships among the terms that describe an organism, and experimental data and processes in this case. SPSE supports capturing and querying provenance information, which is metadata on the experimental processes and data recorded for reproducibility, and includes a visual query-processing tool to formulate complex queries without learning the query language syntax. We demonstrate the significance of SPSE in identifying gene knockout targets for T. cruzi. The overall goal of SPSE is to help researchers discover new or existing knowledge that is implicitly present in the data but not always easily detected. Results demonstrate improved usefulness of SPSE over existing lab systems and approaches, and support for complex query design that is otherwise difficult to achieve without the knowledge of query language syntax

The Ubiquity of Large Graphs and Surprising Challenges of Graph Processing: Extended Survey

Graph processing is becoming increasingly prevalent across many application domains. In spite of this prevalence, there is little research about how graphs are actually used in practice. We performed an extensive study that consisted of an online survey of 89 users, a review of the mailing lists, source repositories, and whitepapers of a large suite of graph software products, and in-person interviews with 6 users and 2 developers of these products. Our online survey aimed at understanding: (i) the types of graphs users have; (ii) the graph computations users run; (iii) the types of graph software users use; and (iv) the major challenges users face when processing their graphs. We describe the participants' responses to our questions highlighting common patterns and challenges. Based on our interviews and survey of the rest of our sources, we were able to answer some new questions that were raised by participants' responses to our online survey and understand the specific applications that use graph data and software. Our study revealed surprising facts about graph processing in practice. In particular, real-world graphs represent a very diverse range of entities and are often very large, scalability and visualization are undeniably the most pressing challenges faced by participants, and data integration, recommendations, and fraud detection are very popular applications supported by existing graph software. We hope these findings can guide future research

GenoList: an integrated environment for comparative analysis of microbial genomes

The multitude of bacterial genome sequences being determined has generated new requirements regarding the development of databases and graphical interfaces: these are needed to organize and retrieve biological information from the comparison of large sets of genomes. GenoList (http://genolist.pasteur.fr/GenoList) is an integrated environment dedicated to querying and analyzing genome data from bacterial species. GenoList inherits from the SubtiList database and web server, the reference data resource for the Bacillus subtilis genome. The data model was extended to hold information about relationships between genomes (e.g. protein families). The web user interface was designed to primarily take into account biologists’ needs and modes of operation. Along with standard query and browsing capabilities, comparative genomics facilities are available, including subtractive proteome analysis. One key feature is the integration of the many tools accessible in the environment. As an example, it is straightforward to identify the genes that are specific to a group of bacteria, export them as a tab-separated list, get their protein sequences and run a multiple alignment on a subset of these sequences

LinkedScales : bases de dados em multiescala

Orientador: André SantanchèTese (doutorado) - Universidade Estadual de Campinas, Instituto de ComputaçãoResumo: As ciências biológicas e médicas precisam cada vez mais de abordagens unificadas para a análise de dados, permitindo a exploração da rede de relacionamentos e interações entre elementos. No entanto, dados essenciais estão frequentemente espalhados por um conjunto cada vez maior de fontes com múltiplos níveis de heterogeneidade entre si, tornando a integração cada vez mais complexa. Abordagens de integração existentes geralmente adotam estratégias especializadas e custosas, exigindo a produção de soluções monolíticas para lidar com formatos e esquemas específicos. Para resolver questões de complexidade, essas abordagens adotam soluções pontuais que combinam ferramentas e algoritmos, exigindo adaptações manuais. Abordagens não sistemáticas dificultam a reutilização de tarefas comuns e resultados intermediários, mesmo que esses possam ser úteis em análises futuras. Além disso, é difícil o rastreamento de transformações e demais informações de proveniência, que costumam ser negligenciadas. Este trabalho propõe LinkedScales, um dataspace baseado em múltiplos níveis, projetado para suportar a construção progressiva de visões unificadas de fontes heterogêneas. LinkedScales sistematiza as múltiplas etapas de integração em escalas, partindo de representações brutas (escalas mais baixas), indo gradualmente para estruturas semelhantes a ontologias (escalas mais altas). LinkedScales define um modelo de dados e um processo de integração sistemático e sob demanda, através de transformações em um banco de dados de grafos. Resultados intermediários são encapsulados em escalas reutilizáveis e transformações entre escalas são rastreadas em um grafo de proveniência ortogonal, que conecta objetos entre escalas. Posteriormente, consultas ao dataspace podem considerar objetos nas escalas e o grafo de proveniência ortogonal. Aplicações práticas de LinkedScales são tratadas através de dois estudos de caso, um no domínio da biologia -- abordando um cenário de análise centrada em organismos -- e outro no domínio médico -- com foco em dados de medicina baseada em evidênciasAbstract: Biological and medical sciences increasingly need a unified, network-driven approach for exploring relationships and interactions among data elements. Nevertheless, essential data is frequently scattered across sources with multiple levels of heterogeneity. Existing data integration approaches usually adopt specialized, heavyweight strategies, requiring a costly upfront effort to produce monolithic solutions for handling specific formats and schemas. Furthermore, such ad-hoc strategies hamper the reuse of intermediary integration tasks and outcomes. This work proposes LinkedScales, a multiscale-based dataspace designed to support the progressive construction of a unified view of heterogeneous sources. It departs from raw representations (lower scales) and goes towards ontology-like structures (higher scales). LinkedScales defines a data model and a systematic, gradual integration process via operations over a graph database. Intermediary outcomes are encapsulated as reusable scales, tracking the provenance of inter-scale operations. Later, queries can combine both scale data and orthogonal provenance information. Practical applications of LinkedScales are discussed through two case studies on the biology domain -- addressing an organism-centric analysis scenario -- and the medical domain -- focusing on evidence-based medicine dataDoutoradoCiência da ComputaçãoDoutor em Ciência da Computação141353/2015-5CAPESCNP

PyCogent: a toolkit for making sense from sequence

The COmparative GENomic Toolkit, a framework for probabilistic analyses of biological sequences, devising workflows and generating publication quality graphics, has been implemented in Python

ProteoLens: a visual analytic tool for multi-scale database-driven biological network data mining

Background New systems biology studies require researchers to understand how interplay among myriads of biomolecular entities is orchestrated in order to achieve high-level cellular and physiological functions. Many software tools have been developed in the past decade to help researchers visually navigate large networks of biomolecular interactions with built-in template-based query capabilities. To further advance researchers' ability to interrogate global physiological states of cells through multi-scale visual network explorations, new visualization software tools still need to be developed to empower the analysis. A robust visual data analysis platform driven by database management systems to perform bi-directional data processing-to-visualizations with declarative querying capabilities is needed. Results We developed ProteoLens as a JAVA-based visual analytic software tool for creating, annotating and exploring multi-scale biological networks. It supports direct database connectivity to either Oracle or PostgreSQL database tables/views, on which SQL statements using both Data Definition Languages (DDL) and Data Manipulation languages (DML) may be specified. The robust query languages embedded directly within the visualization software help users to bring their network data into a visualization context for annotation and exploration. ProteoLens supports graph/network represented data in standard Graph Modeling Language (GML) formats, and this enables interoperation with a wide range of other visual layout tools. The architectural design of ProteoLens enables the de-coupling of complex network data visualization tasks into two distinct phases: 1) creating network data association rules, which are mapping rules between network node IDs or edge IDs and data attributes such as functional annotations, expression levels, scores, synonyms, descriptions etc; 2) applying network data association rules to build the network and perform the visual annotation of graph nodes and edges according to associated data values. We demonstrated the advantages of these new capabilities through three biological network visualization case studies: human disease association network, drug-target interaction network and protein-peptide mapping network. Conclusion The architectural design of ProteoLens makes it suitable for bioinformatics expert data analysts who are experienced with relational database management to perform large-scale integrated network visual explorations. ProteoLens is a promising visual analytic platform that will facilitate knowledge discoveries in future network and systems biology studies