Search results for: query gene

Authors: Paul Shize Li, Frank Alber

Abstract:

A fundamental task of clinical genomics is to unravel the functions of genes and their associations with disorders. Although experimental biology has made efforts to discover and elucidate the molecular mechanisms of individual genes in the past decades, still about 40% of human genes have unknown functions, not to mention the diseases they may be related to. For those biologists who are interested in a particular gene with unknown functions, a powerful computational method tailored for inferring the functions and disease relevance of uncharacterized genes is strongly needed. Studies have shown that genes strongly linked to each other in multiple biological networks are more likely to have similar functions. This indicates that the densely connected subgraphs in multiple biological networks are useful in the functional and phenotypic annotation of uncharacterized genes. Therefore, in this work, we have developed an integrative network approach to identify the frequent local clusters, which are defined as those densely connected subgraphs that frequently occur in multiple biological networks and consist of the query gene that has few or no disease or function annotations. This is a local clustering algorithm that models multiple biological networks sharing the same gene set as a three-dimensional matrix, the so-called tensor, and employs the tensor-based optimization method to efficiently find the frequent local clusters. Specifically, massive public gene expression data sets that comprehensively cover dynamic, physiological, and environmental conditions are used to generate hundreds of gene co-expression networks. By integrating these gene co-expression networks, for a given uncharacterized gene that is of biologist’s interest, the proposed method can be applied to identify the frequent local clusters that consist of this uncharacterized gene. Finally, those frequent local clusters are used for function and disease annotation of this uncharacterized gene. This local tensor clustering algorithm outperformed the competing tensor-based algorithm in both module discovery and running time. We also demonstrated the use of the proposed method on real data of hundreds of gene co-expression data and showed that it can comprehensively characterize the query gene. Therefore, this study provides a new tool for annotating the uncharacterized genes and has great potential to assist clinical genomic diagnostics.

Keywords: local tensor clustering, query gene, gene co-expression network, gene annotation

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Authors: Yusuf Ziya Ayık, Ferhat Kahveci

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Currently, database management systems have various tools such as backup and maintenance, and also provide statistical information such as resource usage and security. In terms of query performance, this paper covers query optimization, views, indexed tables, pre-computation materialized view, query performance analysis in which query plan alternatives can be created and the least costly one selected to optimize a query. Indexes and views can be created for related table columns. The literature review of this study showed that, in the course of time, despite the growing capabilities of the database management system, only database administrators are aware of the need for dealing with archival and transactional data types differently. These data may be constantly changing data used in everyday life, and also may be from the completed questionnaire whose data input was completed. For both types of data, the database uses its capabilities; but as shown in the findings section, instead of repeating similar heavy calculations which are carrying out same results with the same query over a survey results, using materialized view results can be in a more simple way. In this study, this performance difference was observed quantitatively considering the cost of the query.

Keywords: cost of query, database management systems, materialized view, query performance

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Authors: Scott A. Ochsner, Christopher M. Watkins, Apollo McOwiti, David L. Steffen Lauren B. Becnel, Neil J. McKenna

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Understanding signaling by nuclear receptors (NRs) requires an appreciation of their cognate ligand- and tissue-specific transcriptomes. While target gene regulation data are abundant in this field, they reside in hundreds of discrete publications in formats refractory to routine query and analysis and, accordingly, their full value to the NR signaling community has not been realized. One of the mandates of the Nuclear Receptor Signaling Atlas (NURSA) is to facilitate access of the community to existing public datasets. Pursuant to this mandate we are developing a freely-accessible community web resource, Transcriptomine, to bring together the sum total of available expression array and RNA-Seq data points generated by the field in a single location. Transcriptomine currently contains over 25,000,000 gene fold change datapoints from over 1200 contrasts relevant to over 100 NRs, ligands and coregulators in over 200 tissues and cell lines. Transcriptomine is designed to accommodate a spectrum of end users ranging from the bench researcher to those with advanced bioinformatic training. Visualization tools allow users to build custom charts to compare and contrast patterns of gene regulation across different tissues and in response to different ligands. Our resource affords an entirely new paradigm for leveraging gene expression data in the NR signaling field, empowering users to query gene fold changes across diverse regulatory molecules, tissues and cell lines, target genes, biological functions and disease associations, and that would otherwise be prohibitive in terms of time and effort. Transcriptomine will be regularly updated with gene lists from future genome-wide expression array and expression-sequencing datasets in the NR signaling field.

Keywords: target gene database, informatics, gene expression, transcriptomics

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Authors: T. G. Asmitha Chandini

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Web-based image search re-ranking, as an successful method to get better the results. In a query keyword, the first stair is store the images is first retrieve based on the text-based information. The user to select a query keywordimage, by using this query keyword other images are re-ranked based on their visual properties with images.Now a day to day, people projected to match images in a semantic space which is used attributes or reference classes closely related to the basis of semantic image. though, understanding a worldwide visual semantic space to demonstrate highly different images from the web is difficult and inefficient. The re-ranking images, which automatically offline part learns dissimilar semantic spaces for different query keywords. The features of images are projected into their related semantic spaces to get particular images. At the online stage, images are re-ranked by compare their semantic signatures obtained the semantic précised by the query keyword image. The query-specific semantic signatures extensively improve both the proper and efficiency of image re-ranking.

Keywords: Query, keyword, image, re-ranking, semantic, signature

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Authors: Vincent Ballola, Raymund Dilan, Thelma Palaoag

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The Smart Online Library Catalog System with Query Expansion seeks to address the low usage of the library because of the emergence of the Internet. Library users are not accustomed to catalog systems that need a query to have the exact words without any mistakes for decent results to appear. The graphical user interface of the current system has a rather skewed learning curve for users to adapt with. With a simple graphical user interface inspired by Google, users can search quickly just by inputting their query and hitting the search button. Because of the query expansion techniques incorporated into the new system such as stemming, thesaurus search, and weighted search, users can have more efficient results from their query. The system will be adding the root words of the user's query to the query itself which will then be cross-referenced to a thesaurus database to search for any synonyms that will be added to the query. The results will then be arranged by the number of times the word has been searched. Online queries will also be added to the results for additional references. Users showed notable increases in efficiency and usability due to the familiar interface and query expansion techniques incorporated in the system. The simple yet familiar design led to a better user experience. Users also said that they would be more inclined in using the library because of the new system. The incorporation of query expansion techniques gives a notable increase of results to users that in turn gives them a wider range of resources found in the library. Used books mean more knowledge imparted to the users.

Keywords: query expansion, catalog system, stemming, weighted search, usability, thesaurus search

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Authors: Dina K. Badawy, Dina M. Ibrahim, Alsayed A. Sallam

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Distributed database is a collection of logically related databases that cooperate in a transparent manner. Query processing uses a communication network for transmitting data between sites. It refers to one of the challenges in the database world. The development of sophisticated query optimization technology is the reason for the commercial success of database systems, which complexity and cost increase with increasing number of relations in the query. Mariposa, query trading and query trading with processing task-trading strategies developed for autonomous distributed database systems, but they cause high optimization cost because of involvement of all nodes in generating an optimal plan. In this paper, we proposed a modification on the autonomous strategy K-QTPT that make the seller’s nodes with the lowest cost have gradually high priorities to reduce the optimization time. We implement our proposed strategy and present the results and analysis based on those results.

Keywords: autonomous strategies, distributed database systems, high priority, query optimization

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Authors: Muhammet Dursun Kaya, Hasan Asil

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In recent years, different methods have been proposed to optimize question processing in database. Although different methods have been proposed to optimize the query, but the problem which exists here is that most of these methods destroy the query execution plan after executing the query. This research attempts to solve the above problem by using a combination of methods of communicating with the database (the present questions in the programming code and using store procedures) and making query processing adaptive in database, and proposing a new approach for optimization of query processing by introducing the idea of dynamic store procedures. This research creates dynamic store procedures in the database according to the proposed algorithm. This method has been tested on applied software and results shows a significant improvement in reducing the query processing time and also reducing the workload of DBMS. Other advantages of this algorithm include: making the programming environment a single environment, eliminating the parametric limitations of the stored procedures in the database, making the stored procedures in the database dynamic, etc.

Keywords: relational database, agent, query processing, adaptable, communication with the database

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Authors: Jae Moon Lee

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In general, algorithms to find continuous k-nearest neighbors have been researched on the location based services, monitoring periodically the moving objects such as vehicles and mobile phone. Those researches assume the environment that the number of query points is much less than that of moving objects and the query points are not moved but fixed. In gaming environments, this problem is when computing the next movement considering the neighbors such as flocking, crowd and robot simulations. In this case, every moving object becomes a query point so that the number of query point is same to that of moving objects and the query points are also moving. In this paper, we analyze the performance of the existing algorithms focused on location based services how they operate under gaming environments.

Keywords: flocking behavior, heterogeneous agents, similarity, simulation

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Authors: Wafa’ Alma'Aitah, Khaled Almakadmeh

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this study presents an information retrieval system of using genetic algorithm to increase information retrieval efficiency. Using vector space model, information retrieval is based on the similarity measurement between query and documents. Documents with high similarity to query are judge more relevant to the query and should be retrieved first. Using genetic algorithms, each query is represented by a chromosome; these chromosomes are fed into genetic operator process: selection, crossover, and mutation until an optimized query chromosome is obtained for document retrieval. Results show that information retrieval with adaptive crossover probability and single point type crossover and roulette wheel as selection type give the highest recall. The proposed approach is verified using (242) proceedings abstracts collected from the Saudi Arabian national conference.

Keywords: genetic algorithm, information retrieval, optimal queries, crossover

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Authors: Yu-Chen Hu

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Gene editing by CRISPR and gene regulation by microRNA or CRISPR activation have dramatically changed the way to manipulate cellular gene expression and cell fate. In recent years, various gene editing and gene manipulation technologies have been applied to control stem cell differentiation to enhance tissue regeneration. This research will focus on how to develop CRISPR, CRISPR activation (CRISPRa), CRISPR inhibition (CRISPRi), as well as bi-directional CRISPR-AI gene regulation technologies to control cell differentiation and bone regeneration. Moreover, in this study, CRISPR/Cas13d-mediated RNA editng for miRNA editing and bone regeneration will be discussed.

Keywords: gene therapy, bone regeneration, stem cell, CRISPR, gene regulation

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Authors: Chun-Shien Lu

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Privacy-preserving query has recently received considerable attention in the signal processing and multimedia community. It is also a critical step in wireless sensor network for retrieval of sensitive data. The purposes of privacy-preserving query in both the areas of signal processing and sensor network are the same, but the similarity and difference of the adopted technologies are not fully explored. In this paper, we first review the recently developed methods of privacy-preserving query, and then describe in a comprehensive manner what we can learn from the mutual of both areas.

Keywords: encryption, privacy-preserving, search, security

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Authors: Aliyu Isah Agaie, Masrah Azrifah Azmi Murad, Nurfadhlina Mohd Sharef, Aida Mustapha

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Natural Language Interfaces typically support a restricted language and also have scopes and limitations that naïve users are unaware of, resulting in errors when the users attempt to retrieve information from ontologies. To overcome this challenge, an auto-suggest feature is introduced into the querying process where users are guided through the querying process using interactive query construction system. Guiding users to formulate their queries, while providing them with an unconstrained (or almost unconstrained) way to query the ontology results in better interpretation of the query and ultimately lead to an effective search. The approach described in this paper is unobtrusive and subtly guides the users, so that they have a choice of either selecting from the suggestion list or typing in full. The user is not coerced into accepting system suggestions and can express himself using fragments or full sentences.

Keywords: auto-suggest, expressiveness, habitability, natural language interface, query interpretation, user guidance

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Authors: Elaheh Vaezpour

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Data sensing in wireless sensor networks is done by query deceleration the network by the users. In many applications of the wireless sensor networks, many users send queries to the network simultaneously. If the queries are processed separately, the network’s energy consumption will increase significantly. Therefore, it is very important to aggregate the queries before sending them to the network. In this paper, we propose a multiple query optimization framework based on sensors physical and temporal correlation. In the proposed method, queries are merged and sent to network by considering correlation among the sensors in order to reduce the communication cost between the sensors and the base station.

Keywords: wireless sensor networks, multiple query optimization, data correlation, reducing energy consumption

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Authors: Mahbuba Rahman, Sabri Boughorbel, Scott Presnell, Charlie Quinn, Darawan Rinchai, Damien Chaussabel, Nico Marr

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Collections of large-scale datasets made available in public repositories can be used to identify and fill gaps in biomedical knowledge. But first, these data need to be made readily accessible to researchers for analysis and interpretation. Here a collection of transcriptome datasets was made available to investigate the functional programming of human hematopoietic cells in early life. Thirty two datasets were retrieved from the NCBI Gene Expression Omnibus (GEO) and loaded in a custom, interactive web application called the Gene Expression browser (GXB), designed for visualization and query of integrated large-scale data. Multiple sample groupings and gene rank lists were created based on the study design and variables in each dataset. Web links to customized graphical views can be generated by users and subsequently be used to graphically present data in manuscripts for publication. The GXB tool also enables browsing of a single gene across datasets, which can provide information on the role of a given molecule across biological systems. The dataset collection is available online. As a proof-of-principle, one of the datasets (GSE25087) was re-analyzed to identify genes that are differentially expressed by regulatory T cells in early life. Re-analysis of this dataset and a cross-study comparison using multiple other datasets in the above mentioned collection revealed that PMCH, a gene encoding a precursor of melanin-concentrating hormone (MCH), a cyclic neuropeptide, is highly expressed in a variety of other hematopoietic cell types, including neonatal erythroid cells as well as plasmacytoid dendritic cells upon viral infection. Our findings suggest an as yet unrecognized role of MCH in immune regulation, thereby highlighting the unique potential of the curated dataset collection and systems biology approach to generate new hypotheses which can be tested in future mechanistic studies.

Keywords: early-life, GEO datasets, PMCH, interactive query, systems biology

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Authors: Fadhl Alakwaa

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One of the sustainable goals of the system biology is understanding gene-gene interactions. Hence, gene regulatory networks (GRN) need to be constructed for understanding the disease ontology and to reduce the cost of drug development. To construct gene regulatory from gene expression we need to overcome many challenges such as data denoising and dimensionality. In this paper, we develop an integrated system to reduce data dimension and remove the noise. The generated network from our system was validated via available interaction databases and was compared to previous methods. The result revealed the performance of our proposed method.

Keywords: gene regulatory network, biclustering, denoising, system biology

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Authors: Han-Qin Zheng, Yi-Fan Chiang-Hsieh, Chia-Hung Chien, Wen-Chi Chang

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As the most important non-vascular plants, algae have many research applications, including high species diversity, biofuel sources, adsorption of heavy metals and, following processing, health supplements. With the increasing availability of next-generation sequencing (NGS) data for algae genomes and transcriptomes, an integrated resource for retrieving gene expression data and metabolic pathway is essential for functional analysis and systems biology in algae. However, gene expression profiles and biological pathways are displayed separately in current resources, and making it impossible to search current databases directly to identify the cellular response mechanisms. Therefore, this work develops a novel AlgaePath database to retrieve gene expression profiles efficiently under various conditions in numerous metabolic pathways. AlgaePath, a web-based database, integrates gene information, biological pathways, and next-generation sequencing (NGS) datasets in Chlamydomonasreinhardtii and Neodesmus sp. UTEX 2219-4. Users can identify gene expression profiles and pathway information by using five query pages (i.e. Gene Search, Pathway Search, Differentially Expressed Genes (DEGs) Search, Gene Group Analysis, and Co-Expression Analysis). The gene expression data of 45 and 4 samples can be obtained directly on pathway maps in C. reinhardtii and Neodesmus sp. UTEX 2219-4, respectively. Genes that are differentially expressed between two conditions can be identified in Folds Search. Furthermore, the Gene Group Analysis of AlgaePath includes pathway enrichment analysis, and can easily compare the gene expression profiles of functionally related genes in a map. Finally, Co-Expression Analysis provides co-expressed transcripts of a target gene. The analysis results provide a valuable reference for designing further experiments and elucidating critical mechanisms from high-throughput data. More than an effective interface to clarify the transcript response mechanisms in different metabolic pathways under various conditions, AlgaePath is also a data mining system to identify critical mechanisms based on high-throughput sequencing.

Keywords: next-generation sequencing (NGS), algae, transcriptome, metabolic pathway, co-expression

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Authors: Restu Misrianti

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The amino acid variation of Asn (allele A) at position 631 in Mx gene was specific to positive antiviral to avian viral desease. This research was aimed at identifying polymorphism of Mx gene in duck using molecular technique. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique was used to select the genotype of AA, AG and GG. There were thirteen duck from Indragiri Hulu regency (Riau Province) used in this experiment. DNA amplification results showed that the Mx gene in duck is found in a 73 bp fragment. Mx gene in duck did not show any polymorphism. The frequency of the resistant allele (AA) was 0%, while the frequency of the susceptible allele (GG) was 100%.

Keywords: duck, Mx gene, PCR, RFLP

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Authors: Ahmad Shahin, Fadi Chakik, Walid Moudani

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Our study is about elaborating a potential solution for a search engine that involves semantic technology to retrieve information and display it significantly. Semantic search engines are not used widely over the web as the majorities are still in Beta stage or under construction. Many problems face the current applications in semantic search, the major problem is to analyze and calculate the meaning of query in order to retrieve relevant information. Another problem is the ontology based index and its updates. Ranking results according to concept meaning and its relation with query is another challenge. In this paper, we are offering a light meta-engine (QESM) which uses Google search, and therefore Google’s index, with some adaptations to its returned results by adding multi-query expansion. The mission was to find a reliable ranking algorithm that involves semantics and uses concepts and meanings to rank results. At the beginning, the engine finds synonyms of each query term entered by the user based on a lexical database. Then, query expansion is applied to generate different semantically analogous sentences. These are generated randomly by combining the found synonyms and the original query terms. Our model suggests the use of semantic similarity measures between two sentences. Practically, we used this method to calculate semantic similarity between each query and the description of each page’s content generated by Google. The generated sentences are sent to Google engine one by one, and ranked again all together with the adapted ranking method (QESM). Finally, our system will place Google pages with higher similarities on the top of the results. We have conducted experimentations with 6 different queries. We have observed that most ranked results with QESM were altered with Google’s original generated pages. With our experimented queries, QESM generates frequently better accuracy than Google. In some worst cases, it behaves like Google.

Keywords: semantic search engine, Google indexing, query expansion, similarity measures

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Authors: Saeid Doaei

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The various studies have examined the relationship between FTO gene expression and macronutrients levels. In order to obtain better viewpoint from this interactions, all of the existing studies were reviewed systematically. All published papers have been obtained and reviewed using standard and sensitive keywords from databases such as CINAHL, Embase, PubMed, PsycInfo, and the Cochrane, from 1990 to 2016. The results indicated that all of 6 studies that met the inclusion criteria (from a total of 428 published article) found FTO gene expression changes at short-term follow-ups. Four of six studies found an increased FTO gene expression after calorie restriction, while two of them indicated decreased FTO gene expression. The effect of protein, carbohydrate and fat were separately assessed and suggested by all of six studies. In conclusion, the level of FTO gene expression in hypothalamus is related to macronutrients levels. Future research should evaluate the long-term impact of dietary interventions.

Keywords: obesity, gene expression, FTO, macronutrients

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Authors: Rui Yin, Haojie Wang, Xun Li

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Recently, mainstream dense retrieval methods have obtained state-of-the-art results on some datasets and tasks. However, they require large amounts of training data, which is not available in most domains. The severe performance degradation of dense retrievers on new data domains has limited the use of dense retrieval methods to only a few domains with large training datasets. In this paper, we propose an unsupervised domain-adaptive approach based on query generation. First, a generative model is used to generate relevant queries for each passage in the target corpus, and then the generated queries are used for mining negative passages. Finally, the query-passage pairs are labeled with a cross-encoder and used to train a domain-adapted dense retriever. Experiments show that our approach is more robust than previous methods in target domains that require less unlabeled data.

Keywords: dense retrieval, query generation, unsupervised training, text retrieval

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Authors: Mona Heydari, Ehsan Motamedian, Seyed Abbas Shojaosadati

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Prediction of perturbations after genetic manipulation (especially gene knockout) is one of the important challenges in systems biology. In this paper, a new algorithm is introduced that integrates microarray data into the metabolic model. The algorithm was used to study the change in the cell phenotype after knockout of Gss gene in Escherichia coli BW25113. Algorithm implementation indicated that gene deletion resulted in more activation of the metabolic network. Growth yield was more and less regulating gene were identified for mutant in comparison with the wild-type strain.

Keywords: metabolic network, gene knockout, flux balance analysis, microarray data, integration

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Authors: Simon Keller, Rainer Mueller

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Continuous range queries are a common means to handle mobile clients in high-density areas. Most existing approaches focus on settings in which the range queries for location-based services are more or less static, whereas the mobile clients in the ranges move. We focus on a category called dynamic real-time range queries (DRRQ), assuming that both, clients requested by the query and the inquirers, are mobile. In consequence, the query parameters and the query results continuously change. This leads to two requirements: the ability to deal with an arbitrarily high number of mobile nodes (scalability) and the real-time delivery of range query results. In this paper, we present the highly decentralized solution adaptive quad streaming (AQS) for the requirements of DRRQs. AQS approximates the query results in favor of a controlled real-time delivery and guaranteed scalability. While prior works commonly optimize data structures on the involved servers, we use AQS to focus on a highly distributed cell structure without data structures automatically adapting to changing client distributions. Instead of the commonly used request-response approach, we apply a lightweight streaming method in which no bidirectional communication and no storage or maintenance of queries are required at all.

Keywords: approximation of client distributions, continuous spatial range queries, mobile objects, streaming-based decentralization in spatial mobile environments

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Authors: Benjamin Bobbia, Matthias Picard

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In recent years active learning methodologies based on the representativity of the data seems more promising to limit overfitting. The presented query methodology for regression using the Wasserstein distance measuring the representativity of our labelled dataset compared to the global distribution. In this work a crucial use of GroupSort Neural Networks is made therewith to draw a double advantage. The Wasserstein distance can be exactly expressed in terms of such neural networks. Moreover, one can provide explicit bounds for their size and depth together with rates of convergence. However, heterogeneity of the dataset is also considered by weighting the Wasserstein distance with the error of approximation at the previous step of active learning. Such an approach leads to a reduction of overfitting and high prediction performance after few steps of query. After having detailed the methodology and algorithm, an empirical study is presented in order to investigate the range of our hyperparameters. The performances of this method are compared, in terms of numbers of query needed, with other classical and recent query methods on several UCI datasets.

Keywords: active learning, Lipschitz regularization, neural networks, optimal transport, regression

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Authors: Ahlem Bouziri, Chiraz Latiri, Eric Gaussier

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The steady growth in the size of textual document collections is a key progress-driver for modern information retrieval techniques whose effectiveness and efficiency are constantly challenged. Given a user query, the number of retrieved documents can be overwhelmingly large, hampering their efficient exploitation by the user. In addition, retaining only relevant documents in a query answer is of paramount importance for an effective meeting of the user needs. In this situation, the query expansion technique offers an interesting solution for obtaining a complete answer while preserving the quality of retained documents. This mainly relies on an accurate choice of the added terms to an initial query. Interestingly enough, query expansion takes advantage of large text volumes by extracting statistical information about index terms co-occurrences and using it to make user queries better fit the real information needs. In this respect, a promising track consists in the application of data mining methods to extract dependencies between terms, namely a generic basis of association rules between terms. The key feature of our approach is a better trade off between the size of the mining result and the conveyed knowledge. Thus, face to the huge number of derived association rules and in order to select the optimal combination of query terms from the generic basis, we propose to model the problem as a classification problem and solve it using a supervised learning algorithm such as SVM or k-means. For this purpose, we first generate a training set using a genetic algorithm based approach that explores the association rules space in order to find an optimal set of expansion terms, improving the MAP of the search results. The experiments were performed on SDA 95 collection, a data collection for information retrieval. It was found that the results were better in both terms of MAP and NDCG. The main observation is that the hybridization of text mining techniques and query expansion in an intelligent way allows us to incorporate the good features of all of them. As this is a preliminary attempt in this direction, there is a large scope for enhancing the proposed method.

Keywords: supervised leaning, classification, query expansion, association rules

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Authors: Alhadi Bustaman, Soeganda Formalidin, Titin Siswantining

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DNA microarray technology is used to analyze thousand gene expression data simultaneously and a very important task for drug development and test, function annotation, and cancer diagnosis. Various clustering methods have been used for analyzing gene expression data. However, when analyzing very large and heterogeneous collections of gene expression data, conventional clustering methods often cannot produce a satisfactory solution. Biclustering algorithm has been used as an alternative approach to identifying structures from gene expression data. In this paper, we introduce a transform technique based on singular value decomposition to identify normalized matrix of gene expression data followed by Mixed-Clustering algorithm and the Lift algorithm, inspired in the node-deletion and node-addition phases proposed by Cheng and Church based on Agglomerative Hierarchical Clustering (AHC). Experimental study on standard datasets demonstrated the effectiveness of the algorithm in gene expression data.

Keywords: agglomerative hierarchical clustering (AHC), biclustering, gene expression data, lymphoma, singular value decomposition (SVD)

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Authors: Rui Yin, Haojie Wang, Xun Li

Abstract:

Recently, mainstream dense retrieval methods have obtained state-of-the-art results on some datasets and tasks. However, they require large amounts of training data, which is not available in most domains. The severe performance degradation of dense retrievers on new data domains has limited the use of dense retrieval methods to only a few domains with large training datasets. In this paper, we propose an unsupervised domain-adaptive approach based on query generation. First, a generative model is used to generate relevant queries for each passage in the target corpus, and then, the generated queries are used for mining negative passages. Finally, the query-passage pairs are labeled with a cross-encoder and used to train a domain-adapted dense retriever. We also explore contrastive learning as a method for training domain-adapted dense retrievers and show that it leads to strong performance in various retrieval settings. Experiments show that our approach is more robust than previous methods in target domains that require less unlabeled data.

Keywords: dense retrieval, query generation, contrastive learning, unsupervised training

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Authors: Hazha Hidayat, Shayma Ibrahim

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Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

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Authors: Hala Alshamlan, Ghada Badr, Yousef Alohali

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Cancer is one of the dreadful diseases, which causes considerable death rate in humans. DNA microarray-based gene expression profiling has been emerged as an efficient technique for cancer classification, as well as for diagnosis, prognosis, and treatment purposes. In recent years, a DNA microarray technique has gained more attraction in both scientific and in industrial fields. It is important to determine the informative genes that cause cancer to improve early cancer diagnosis and to give effective chemotherapy treatment. In order to gain deep insight into the cancer classification problem, it is necessary to take a closer look at the proposed gene selection methods. We believe that they should be an integral preprocessing step for cancer classification. Furthermore, finding an accurate gene selection method is a very significant issue in a cancer classification area because it reduces the dimensionality of microarray dataset and selects informative genes. In this paper, we classify and review the state-of-art gene selection methods. We proceed by evaluating the performance of each gene selection approach based on their classification accuracy and number of informative genes. In our evaluation, we will use four benchmark microarray datasets for the cancer diagnosis (leukemia, colon, lung, and prostate). In addition, we compare the performance of gene selection method to investigate the effective gene selection method that has the ability to identify a small set of marker genes, and ensure high cancer classification accuracy. To the best of our knowledge, this is the first attempt to compare gene selection approaches for cancer classification using microarray gene expression profile.

Keywords: gene selection, feature selection, cancer classification, microarray, gene expression profile

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Authors: Somyung Oh, Jeonghyeon Ha, Kyungwon Lee, Sejong Oh

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Microarray is a general scheme to find differentially expressed genes for target concept. The output is expressed by heat map, and biologists analyze related terms of gene ontology to find some characteristics of differentially expressed genes. In this paper, we propose integrated visualization tool for heat map and gene ontology graph. Previous two methods are used by static manner and separated way. Proposed visualization tool integrates them and users can interactively manage it. Users may easily find and confirm related terms of gene ontology for given differentially expressed genes. Proposed tool also visualize connections between genes on heat map and gene ontology graph. We expect biologists to find new meaningful topics by proposed tool.

Keywords: heat map, gene ontology, microarray, differentially expressed gene

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Authors: Shohei Maruyama, Yasuo Matsuyama, Sachiyo Aburatani

Abstract:

The development of the method to annotate unknown gene functions is an important task in bioinformatics. One of the approaches for the annotation is The identification of the metabolic pathway that genes are involved in. Gene expression data have been utilized for the identification, since gene expression data reflect various intracellular phenomena. However, it has been difficult to estimate the gene function with high accuracy. It is considered that the low accuracy of the estimation is caused by the difficulty of accurately measuring a gene expression. Even though they are measured under the same condition, the gene expressions will vary usually. In this study, we proposed a feature extraction method focusing on the variability of gene expressions to estimate the genes' metabolic pathway accurately. First, we estimated the distribution of each gene expression from replicate data. Next, we calculated the similarity between all gene pairs by KL divergence, which is a method for calculating the similarity between distributions. Finally, we utilized the similarity vectors as feature vectors and trained the multiclass SVM for identifying the genes' metabolic pathway. To evaluate our developed method, we applied the method to budding yeast and trained the multiclass SVM for identifying the seven metabolic pathways. As a result, the accuracy that calculated by our developed method was higher than the one that calculated from the raw gene expression data. Thus, our developed method combined with KL divergence is useful for identifying the genes' metabolic pathway.

Keywords: metabolic pathways, gene expression data, microarray, Kullback–Leibler divergence, KL divergence, support vector machines, SVM, machine learning

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