Discovering and Ranking Semantic Associations over a Large RDF Metabase

Information retrieval over semantic metadata has recently received a great amount of interest in both industry and academia. In particular, discovering complex and meaningful relationships among this data is becoming an active research topic. Just as ranking of documents is a critical component of today's search engines, the ranking of relationships will be essential in tomorrow's semantic analytics engines. Building upon our recent work on specifying these semantic relationships, which we refer to as Semantic Associations, we demonstrate a system where these associations are discovered among a large semantic metabase represented in RDF. Additionally we employ ranking techniques to provide users with the most interesting and relevant results

Discovering Complex Relationships between Drugs and Diseases

Finding the complex semantic relations between existing drugs and new diseases will help in the drug development in a new way. Most of the drugs which have found new uses have been discovered due to serendipity. Hence, the prediction of the uses of drugs for more than one disease should be done in a systematic way by studying the semantic relations between the drugs and diseases and also the other entities involved in the relations. Hence, in order to study the complex semantic relations between drugs and diseases an application was developed that integrates the heterogeneous data in different formats from different public databases which are available online. A high level ontology was also developed to integrate the data and only the fields required for the current study were used. The data was collected from different data sources such as DrugBank, UniProt/SwissProt, GeneCards and OMIM. Most of these data sources are the standard data sources and have been used by National Committee of Biotechnology Information of Nation Institute of Health. The data was parsed and integrated and complex semantic relations were discovered. This is a simple and novel effort which may find uses in development of new drug targets and polypharmacology

Ontology ranking based on the analysis of concept structures

In view of the need to provide tools to facilitate the reuse of existing knowledge structures such as ontologies, we present in this paper a system, AKTiveRank, for the ranking of ontologies. AKTiveRank uses as input the search terms provided by a knowledge engineer and, using the output of an ontology search engine, ranks the ontologies. We apply a number of classical metrics in an attempt to investigate their appropriateness for ranking ontologies, and compare the results with a questionnaire-based human study. Our results show that AKTiveRank will have great utility although there is potential for improvement

Semantic-Based Publish/Subscribe System in Social Network

The publish/subscribe model has become a prevalent paradigm for building distributed notification services by decoupling the publishers and the subscribers from each other. The semantics-based publish/subscribe system allows highly expressive descriptions of subscriptions and publications and thus is more appropriate for content dissemination when a finer level of granularity is necessary. In this paper we have designed and implemented a semantic-based publish/subscribe system that can be adapted into social networks where thousands of people can share their common interests through publications and subscriptions. We have described our ontology, defined publishers’ and subscribers’ data semantics or schema, provided a matching algorithm, portrayed the implementation and shown the result of an implemented publish/subscribe system that allows the users to publish and subscribe different kinds of news in a social network platform. Our experience shows that the semantic-based publish/subscribe system can enhance the current social networks by providing an effective content dissemination mechanism

A Framework for Top-K Queries over Weighted RDF Graphs

abstract: The Resource Description Framework (RDF) is a specification that aims to support the conceptual modeling of metadata or information about resources in the form of a directed graph composed of triples of knowledge (facts). RDF also provides mechanisms to encode meta-information (such as source, trust, and certainty) about facts already existing in a knowledge base through a process called reification. In this thesis, an extension to the current RDF specification is proposed in order to enhance RDF triples with an application specific weight (cost). Unlike reification, this extension treats these additional weights as first class knowledge attributes in the RDF model, which can be leveraged by the underlying query engine. Additionally, current RDF query languages, such as SPARQL, have a limited expressive power which limits the capabilities of applications that use them. Plus, even in the presence of language extensions, current RDF stores could not provide methods and tools to process extended queries in an efficient and effective way. To overcome these limitations, a set of novel primitives for the SPARQL language is proposed to express Top-k queries using traditional query patterns as well as novel predicates inspired by those from the XPath language. Plus, an extended query processor engine is developed to support efficient ranked path search, join, and indexing. In addition, several query optimization strategies are proposed, which employ heuristics, advanced indexing tools, and two graph metrics: proximity and sub-result inter-arrival time. These strategies aim to find join orders that reduce the total query execution time while avoiding worst-case pattern combinations. Finally, extensive experimental evaluation shows that using these two metrics in query optimization has a significant impact on the performance and efficiency of Top-k queries. Further experiments also show that proximity and inter-arrival have an even greater, although sometimes undesirable, impact when combined through aggregation functions. Based on these results, a hybrid algorithm is proposed which acknowledges that proximity is more important than inter-arrival time, due to its more complete nature, and performs a fine-grained combination of both metrics by analyzing the differences between their individual scores and performing the aggregation only if these differences are negligible.Dissertation/ThesisM.S. Computer Science 201

Top-k Keyword Search Over Graphs Based On Backward Search

Keyword search is one of the most friendly and intuitive information retrieval methods. Using the keyword search to get the connected subgraph has a lot of application in the graph-based cognitive computation, and it is a basic technology. This paper focuses on the top-k keyword searching over graphs. We implemented a keyword search algorithm which applies the backward search idea. The algorithm locates the keyword vertices firstly, and then applies backward search to find rooted trees that contain query keywords. The experiment shows that query time is affected by the iteration number of the algorithm

Entity-relation search: context pattern driven relation ranking

A traditional page link-based search system is not adequate for users intending to query data efficiently. For instance, emergent phenomena reveal that some entity-based search engines, such as EntityRank, directly return answers (target entities) to users instead of web pages. Most of the time, however, compared to searching for interested entities, users more often focus on relationships among entities. To our knowledge, there is only one web search system that automatically extracts relations from massive unstructured corpora. This system is referred to as OpenIE, which indeed brings us one step closer to an entity relation-based system. Nevertheless, its system extracts only direct relations between a pair of entities and ranks simply by occurrence frequency. The monotone pattern extraction, adopted in their relation phrase extraction model, provides high quality entity relations but also fail to return many potential true relations in the corpus, which has been explained in Section 4.2 and affects recall significantly shown in 5.3. In addition, it is difficult for users to retrieve their interested and true relations from massive relation candidate set without a qualified ranking model. Consequently, there still exists a gap between the system and users for retrieving entity relations efficiently by a simple query. To assist users to find their interested relations efficiently, this thesis specifically focuses on the core challenges of the ranking model. Naturally, the quality of each relation candidate is largely relevant to its context. Thus, to evaluate various conditions, a novel idea of context patterns driven ranking has been introduced. After evaluating our online prototype on millions of PubMed medical abstracts, we show that our system performs better than the OpenIE system on both precision and recall. Note that this rich and novel system is the product of a collaborative team effort comprised of the following members: Zequn Zhang, Jiarui Xu, and Varun Berry, and supervised by Professor Kevin Chang

A framework for discovering meaningful associations in the annotated life sciences Web

During the last decade, life sciences researchers have gained access to the entire human genome, reliable high-throughput biotechnologies, affordable computational resources, and public network access. This has produced vast amounts of data and knowledge captured in the life sciences Web, and has created the need for new tools to analyze this knowledge and make discoveries. Consider a simplified Web of three publicly accessible data resources Entrez Gene, PubMed and OMIM. Data records in each resource are annotated with terms from multiple controlled vocabularies (CVs). The links between data records in two resources form a relationship between the two resources. Thus, a record in Entrez Gene, annotated with GO terms, can have links to multiple records in PubMed that are annotated with MeSH terms. Similarly, OMIM records annotated with terms from SNOMED CT may have links to records in Entrez Gene and PubMed. This forms a rich web of annotated data records. The objective of this research is to develop the Life Science Link (LSLink) methodology and tools to discover meaningful patterns across resources and CVs. In a first step, we execute a protocol to follow links, extract annotations, and generate datasets of termlinks, which consist of data records and CV terms. We then mine the termlinks of the datasets to find potentially meaningful associations between pairs of terms from two CVs. Biologically meaningful associations of pairs of CV terms may yield innovative nuggets of previously unknown knowledge. Moreover, the bridge of associations across CV terms will reflect the practice of how scientists annotate data across linked data repositories. Contributions include a methodology to create background datasets, metrics for mining patterns, applying semantic knowledge for generalization, tools for discovery, and validation with biological use cases. Inspired by research in association rule mining and linkage analysis, we develop two metrics to determine support and confidence scores in the associations of pairs of CV terms. Associations that have a statistically significant high score and are biologically meaningful may lead to new knowledge. To further validate the support and confidence metrics, we develop a secondary test for significance based on the hypergeometric distribution. We also exploit the semantics of the CVs. We aggregate termlinks over siblings of a common parent CV term and use them as additional evidence to boost the support and confidence scores in the associations of the parent CV term. We provide a simple discovery interface where biologists can review associations and their scores. Finally, a cancer informatics use case validates the discovery of associations between human genes and diseases

Bioinformatics assisted breeding, from QTL to candidate genes

Over the last decade, the amount of data generated by a single run of a NGS sequencer outperforms days of work done with Sanger sequencing. Metabolomics, proteomics and transcriptomics technologies have also involved producing more and more information at an ever faster rate. In addition, the number of databases available to biologists and breeders is increasing every year. The challenge for them becomes two-fold, namely: to cope with the increased amount of data produced by these new technologies and to cope with the distribution of the information across the Web. An example of a study with a lot of ~omics data is described in Chapter 2, where more than 600 peaks have been measured using liquid chromatography mass-spectrometry (LCMS) in peel and flesh of a segregating F1apple population. In total, 669 mQTL were identified in this study. The amount of mQTL identified is vast and almost overwhelming. Extracting meaningful information from such an experiment requires appropriate data filtering and data visualization techniques. The visualization of the distribution of the mQTL on the genetic map led to the discovery of QTL hotspots on linkage group: 1, 8, 13 and 16. The mQTL hotspot on linkage group 16 was further investigated and mainly contained compounds involved in the phenylpropanoid pathway. The apple genome sequence and its annotation were used to gain insight in genes potentially regulating this QTL hotspot. This led to the identification of the structural gene leucoanthocyanidin reductase (LAR1) as well as seven genes encoding transcription factors as putative candidates regulating the phenylpropanoid pathway, and thus candidates for the biosynthesis of health beneficial compounds. However, this study also indicated bottlenecks in the availability of biologist-friendly tools to visualize large-scale QTL mapping results and smart ways to mine genes underlying QTL intervals. In this thesis, we provide bioinformatics solutions to allow exploration of regions of interest on the genome more efficiently. In Chapter 3, we describe MQ2, a tool to visualize results of large-scale QTL mapping experiments. It allows biologists and breeders to use their favorite QTL mapping tool such as MapQTL or R/qtl and visualize the distribution of these QTL among the genetic map used in the analysis with MQ2. MQ2provides the distribution of the QTL over the markers of the genetic map for a few hundreds traits. MQ2is accessible online via its web interface but can also be used locally via its command line interface. In Chapter 4, we describe Marker2sequence (M2S), a tool to filter out genes of interest from all the genes underlying a QTL. M2S returns the list of genes for a specific genome interval and provides a search function to filter out genes related to the provided keyword(s) by their annotation. Genome annotations often contain cross-references to resources such as the Gene Ontology (GO), or proteins of the UniProt database. Via these annotations, additional information can be gathered about each gene. By integrating information from different resources and offering a way to mine the list of genes present in a QTL interval, M2S provides a way to reduce a list of hundreds of genes to possibly tens or less of genes potentially related to the trait of interest. Using semantic web technologies M2S integrates multiple resources and has the flexibility to extend this integration to more resources as they become available to these technologies. Besides the importance of efficient bioinformatics tools to analyze and visualize data, the work in Chapter 2also revealed the importance of regulatory elements controlling key genes of pathways. The limitation of M2S is that it only considers genes within the interval. In genome annotations, transcription factors are not linked to the trait (keyword) and to the gene it controls, and these relationships will therefore not be considered. By integrating information about the gene regulatory network of the organism into Marker2sequence, it should be able to integrate in its list of genes, genes outside of the QTL interval but regulated by elements present within the QTL interval. In tomato, the genome annotation already lists a number of transcription factors, however, it does not provide any information about their target. In Chapter 5, we describe how we combined transcriptomics information with six genotypes from an Introgression Line (IL) population to find genes differentially expressed while being in a similar genomic background (i.e.: outside of any introgression segments) as the reference genotype (with no introgression). These genes may be differentially expressed as a result of a regulatory element present in an introgression. The promoter regions of these genes have been analyzed for DNA motifs, and putative transcription factor binding sites have been found. The approaches taken in M2S (Chaper 4) are focused on a specific region of the genome, namely the QTL interval. In Chapter 6, we generalized this approach to develop Annotex. Annotex provides a simple way to browse the cross-references existing between biological databases (ChEBI, Rhea, UniProt, GO) and genome annotations. The main concept of Annotex being, that from any type of data present in the databases, one can navigate the cross-references to retrieve the desired type of information. This thesis has resulted in the production of three tools that biologists and breeders can use to speed up their research and build new hypothesis on. This thesis also revealed the state of bioinformatics with regards to data integration. It also reveals the need for integration into annotations (for example, genome annotations, protein annotations, and pathway annotations) of more ontologies than just the Gene Ontology (GO) currently used. Multiple platforms are arising to build these new ontologies but the process of integrating them into existing resources remains to be done. It also confirms the state of the data in plants where multiples resources may contain overlapping. Finally, this thesis also shows what can be achieved when the data is made inter-operable which should be an incentive to the community to work together and build inter-operable, non-overlapping resources, creating a bioinformatics Web for plant research.</p