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Littérature scientifique sur le sujet « Mutation database »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 19 juillet 2025

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Articles de revues sur le sujet "Mutation database"

Lee, Joon-Hyop, Jiyoung Ahn, Won Seo Park, et al. "Colorectal Cancer Prognosis is Not Associated with BRAF and KRAS Mutations-A STROBE Compliant Study." Journal of Clinical Medicine 8, no. 1 (2019): 111. http://dx.doi.org/10.3390/jcm8010111.

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Background: We investigated the associations between v-Raf murine sarcoma viral oncogene homolog B1 (BRAFV600E, henceforth BRAF) and v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations and colorectal cancer (CRC) prognosis, using The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GSE39582) datasets. Materials and Methods: The effects of BRAF and KRAS mutations on overall survival (OS) and disease-free survival (DFS) of CRC were evaluated. Results: The mutational status of BRAF and KRAS genes was not associated with overall survival (OS) or DFS of the CRC patients

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Gottlieb, Bruce, Lenore K. Beitel, and Mark A. Trifiro. "Variable expressivity and mutation databases: The androgen receptor gene mutations database." Human Mutation 17, no. 5 (2001): 382–88. http://dx.doi.org/10.1002/humu.1113.

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Ping, Jie, Olufunmilola Oyebamiji, Hui Yu, et al. "MutEx: a multifaceted gateway for exploring integrative pan-cancer genomic data." Briefings in Bioinformatics 21, no. 4 (2019): 1479–86. http://dx.doi.org/10.1093/bib/bbz084.

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Abstract Somatic mutation and gene expression dysregulation are considered two major tumorigenesis factors. While independent investigations of either factor pervade, studies of associations between somatic mutations and gene expression changes have been sporadic and nonsystematic. Utilizing genomic data collected from 11 315 subjects of 33 distinct cancer types, we constructed MutEx, a pan-cancer integrative genomic database. This database records the relationships among gene expression, somatic mutation and survival data for cancer patients. MutEx can be used to swiftly explore the relations

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Stenson, P. D., E. Ball, K. Howells, A. Phillips, M. Mort, and D. N. Cooper. "Human Gene Mutation Database: towards a comprehensive central mutation database." Journal of Medical Genetics 45, no. 2 (2007): 124–26. http://dx.doi.org/10.1136/jmg.2007.055210.

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Bhattacharya, Sanjoy K. "Article Commentary: Prospects for Proteomics Directed Genomic and Genetic Analyses in Disease Discoveries." Proteomics Insights 2 (January 2009): PRI.S3023. http://dx.doi.org/10.4137/pri.s3023.

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Proteomic discoveries are usually made using database searches for identification of proteins in a given protein sample derived from cells or tissues. High throughput searches leave a number of peptides not analyzed for a variety of reasons, such as posttranslational modification or a mutation that results changes in the peptide that is not present in databases. Such mutations may be critically important in causing disease conditions. Accounts from ocular diseases are presented where the search provided results often from non-conventional databases (such as structural database instead of prote

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Nowacki, P. "PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases." Nucleic Acids Research 26, no. 1 (1998): 220–25. http://dx.doi.org/10.1093/nar/26.1.220.

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Nebel, Istvan T., Barbara Trültsch, and Ralf Paschke. "TSH Receptor Mutation Database." Journal of Clinical Endocrinology & Metabolism 84, no. 6 (1999): 2263. http://dx.doi.org/10.1210/jcem.84.6.5809-9.

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Cooper, D. N., and Michael Krawczak. "Human Gene Mutation Database." Human Genetics 98, no. 5 (1996): 629. http://dx.doi.org/10.1007/s004390050272.

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Shemansky, Jennifer M., Lea Patrice McDaniel, Christopher Klimas, et al. "Pig‐agene mutation database." Environmental and Molecular Mutagenesis 60, no. 8 (2019): 759–62. http://dx.doi.org/10.1002/em.22298.

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Niesler, Beate, Christine Fischer, and Gudrun A. Rappold. "The humanSHOX mutation database." Human Mutation 20, no. 5 (2002): 338–41. http://dx.doi.org/10.1002/humu.10125.

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Thèses sur le sujet "Mutation database"

Wright, Christopher. "Mutation analysis of relational database schemas." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/12059/.

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The schema is the key artefact used to describe the structure of a relational database, specifying how data will be stored and the integrity constraints used to ensure it is valid. It is therefore surprising that to date little work has addressed the problem of schema testing, which aims to identify mistakes in the schema early in software development. Failure to do so may lead to critical faults, which may cause data loss or degradation of data quality, remaining undetected until later when they will prove much more costly to fix. This thesis explores how mutation analysis – a technique commo

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Wu, Yongjian. "An empirical study of the use of conceptual models for mutation testing of database application programs." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B37599434.

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Wu, Yongjian, and 吳勇堅. "An empirical study of the use of conceptual models for mutation testing of database application programs." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B37599434.

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Kamanu, Frederick Kinyua. "Computational Verification of Published Human Mutations." Thesis, University of the Western Cape, 2008. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2906_1269551415.

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<p>The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. Most human sequence variations are characterized by structural complexity and, are hence, associated with abnormal functional dynamics. This thesis covers the assembly of a computational platform for verifying these variations, based on accurate, published, experimental data.</p>

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Sevinc, Ender. "Genetic Algorithms For Distributed Database Design And Distributed Database Query Optimization." Phd thesis, METU, 2009. http://etd.lib.metu.edu.tr/upload/3/12611194/index.pdf.

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The increasing performance of computers, reduced prices and ability to connect systems with low cost gigabit ethernet LAN and ATM WAN networks make distributed database systems an attractive research area. However, the complexity of distributed database query optimization is still a limiting factor. Optimal techniques, such as dynamic programming, used in centralized database query optimization are not feasible because of the increased problem size. The recently developed genetic algorithm (GA) based optimization techniques presents a promising alternative. We compared the best known GA with

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Nowacki, Piotr Marek. "Design, development, and deployment of a locus specific mutation database : the PAHdb example." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/MQ44234.pdf.

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McCormick, II Donald W. "Towards A Sufficient Set of Mutation Operators for Structured Query Language (SQL)." Thesis, Virginia Tech, 2010. http://hdl.handle.net/10919/32526.

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Test suites for database applications depend on adequate test data and real-world test faults for success. An automated tool is available that quantifies test data coverage for database queries written in SQL. An automated tool is also available that mimics real-world faults by mutating SQL, however tests have revealed that these simulated faults do not completely represent real-world faults. This paper demonstrates how half of the mutation operators used by the SQL mutation tool in real-world test suites generated significantly lower detection scores than those from research test suites. Thre

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Kang, Ce. "Investigating the Genetic Basis of the Spastic-Ataxias using Next Generation Sequencing and a Mutation Database." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/27330.

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Introduction: “Spastic-ataxias” are a group of conditions that are characterised by spasticity as well as ataxia. They are usually hereditary in nature, and demonstrate widespread genetic heterogeneity and phenotypical variance. In this thesis, I seek to draw meaningful genotype-phenotype relationship in two disorders – Hereditary Cerebellar Ataxia (HCA) and Hereditary Spastic Paraplegia (HSP). Method: We undertook separate studies for each disorder. The first study is a retrospective review of HCA cases referred to the Neurogenetics Clinic at Royal North Shore Hospital over a 15-year perio

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Venkatesan, Lavanya. "Identifying and Tracking the Evolution of Mutations in the SARS-CoV-2 Virus." Thesis, Virginia Tech, 2021. http://hdl.handle.net/10919/103939.

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SARS-CoV-2 is caused by a pathogenic and highly transmissible beta coronavirus leading to severe infections in immuno-compromised individuals. This study first evaluates the primers used in the Reverse Transcription Polymerase Chain Reaction (RT-PCR) to detect SARS-CoV-2 by understanding how mutations might affect the primer efficiency with the SARS-CoV-2 sequences. Mutations on the Spike protein of SARS-CoV-2 are the most important as the spike protein mediates the viral entry into host cells. This study tracks the course of mutations on the spike protein by focusing on the haplogroups of th

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MOROSINI, SARA. "Integrated genetic diagnosis of neurofibromatosis type 1 (NF1) and molecular characterization of one case of compound heterozygosity." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/83314.

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Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last eleven years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 605 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by DHPLC analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products. In addition, a subset of patients was studied by MLPA to identify

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Livres sur le sujet "Mutation database"

Wong, W. Eric. Mutation Testing for the New Century (Advances in Database Systems). Springer, 2001.

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Richards, G., and O. Oud. Mutations: An Interactive Education Tool for Secondary Schools and Undergraduates University Teaching (World Biodiversity Database Electronic Series). UNESCO, 2003.

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Hocker, Thomas Lewis Hamaguchi. Construction of the first melanoma mutational database: Insight into the molecular mechansisms of predisposition and tumorigenesis. 2008.

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Chapitres de livres sur le sujet "Mutation database"

Collod-Béroud, Gwenaëlle, and Catherine Boileau. "The Marfan Mutation Database." In Marfan Syndrome: A Primer for Clinicians and Scientists. Springer US, 2004. http://dx.doi.org/10.1007/978-1-4419-9013-6_9.

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Do, Van-Nho, Quang-Vu Nguyen, and Thanh-Binh Nguyen. "Evaluating Mutation Operator and Test Case Effectiveness by Means of Mutation Testing." In Intelligent Information and Database Systems. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-73280-6_66.

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Masrom, S., Siti Z. Z. Abidin, N. Omar, and K. Nasir. "Time-Varying Mutation in Particle Swarm Optimization." In Intelligent Information and Database Systems. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-36546-1_4.

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Nguyen, Quang Vu, and Lech Madeyski. "Higher Order Mutation Testing to Drive Development of New Test Cases: An Empirical Comparison of Three Strategies." In Intelligent Information and Database Systems. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49381-6_23.

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Nguyen, Quang Vu, and Lech Madeyski. "On the Relationship Between the Order of Mutation Testing and the Properties of Generated Higher Order Mutants." In Intelligent Information and Database Systems. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49381-6_24.

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Cruts, Marc, and Christine Van Broeckhoven. "Data Mining: Applying the AD&FTD Mutation Database to Progranulin." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8559-3_6.

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Hu, Peng, Yongli Wang, Hening Wang, et al. "ALO-DM: A Smart Approach Based on Ant Lion Optimizer with Differential Mutation Operator in Big Data Analytics." In Database Systems for Advanced Applications. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-91455-8_6.

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Ghanim, Abdelbagi M. A. "Physical Mutagenesis in Cereal Crops." In Mutation Breeding and Efficiency Enhancing Technologies for Resistance to Striga in Cereals. Springer Berlin Heidelberg, 2023. http://dx.doi.org/10.1007/978-3-662-68181-7_2.

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AbstractThe use of physical mutagens to induce heritable genetic variation in crop plants dates back to the beginning of the twentieth century. While X-rays were the first to be used for mutation induction in plants, gamma-rays have been the most widely used physical mutagen. Currently gamma induced mutations represents 60% of the registered mutant varieties in the Mutant Variety Database of the Joint FAO/IAEA Centre of Nuclear Techniques in Food and Agriculture. Beside gamma and X-rays, other physical mutagens include neutrons, beta particles, alpha particles, protons and ion beam. This chapter introduces the technique of physical mutagenesis with emphasis on gamma-ray and X-ray irradiation of seeds in cereals in the context of inducing genetic variation for resistance to the parasitic weed, Striga. Easy to follow step-by-step protocols are explained including sample preparation, treatment application and post-treatment handling of irradiated seeds. Data collection and graphic illustration are presented to estimate the optimum dose for bulk treatment to determine the radio-sensitivity of cereal crops. The last section briefly explains the development and handling of mutant populations by way of introduction to the rest of this book on mutation breeding in cereals for resistance to Striga.

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Sevanthi, Amitha Mithra V., Prashant Kale, Chandra Prakash, et al. "National repository of EMS induced mutants of an upland rice cultivar Nagina 22: progress update on characterization and utilization." In Mutation breeding, genetic diversity and crop adaptation to climate change. CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0030.

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Abstract The Indian initiative for creating mutant resources in rice has generated 87,000 mutants in the background of a popular drought- and heat-tolerant upland cultivar, Nagina 22 (N22), through EMS mutagenesis. So far, 541 macro-mutants from this resource have been identified, maintained in the mutant garden and characterized in detail based on 44 descriptors pertaining to distinctness, uniformity and stability (DUS) of rice and other agronomic parameters. The similarity index of the mutants was more than 0.6 for nearly 90% of the mutants with respect to DUS descriptors, further establishing the validity of the mutants. The available high-quality sequence resource of N22 has been improved by reducing the gaps by 0.02% in the coding sequence (CDS) region. This was made possible using the newly synthesized whole-genome data of N22 which helped to remove 9006 'Ns' and replace 12,746 existing nucleotides with the accurate ones. These sequence and morphological details have been updated in the mutant database 'EMSgardeN22'. Further, 1058 mutants have been identified for low-P tolerance, tolerance to sheath blight, blast, drought, heat, higher photosynthetic efficiency and agronomic and root traits from this resource. A novel herbicide-tolerant (imazethapyr) mutant earlier identified and characterized from this resource is now being used in introgressing the herbicide-tolerant trait in eight major rice varieties in India. Further, robust and simpler screening systems have been tested for studying low-P tolerance of the mutants. A grain-size mutant, heat-tolerant mutant, drought-tolerant mutant, stay-green mutant and low-P tolerant and water-use efficient high-root-volume mutants have been characterized at morphological and molecular levels. A brief account of all these mutants, the entire mutant resource and the elaborate trait-based screenings is presented in this chapter.

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Zatkova, Andrea, Tatiana Sedlackova, Jan Radvansky, et al. "Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database." In JIMD Reports. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_68.

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Actes de conférences sur le sujet "Mutation database"

Tang, Yun, Dhanush Raj, Xingyu Zhao, et al. "ODD-based Query-time Scenario Mutation Framework for Autonomous Driving Scenario databases." In 2024 IEEE International Conference on Robotics and Automation (ICRA). IEEE, 2024. http://dx.doi.org/10.1109/icra57147.2024.10610412.

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Tuya, Javier, Ma Jose Suarez-Cabal, and Claudio de la Riva. "SQLMutation: A tool to generate mutants of SQL database queries." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.13.

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Cabeca, Andrea Gonçalves, Mario Jino, and Plinio S. Leitao-Junior. "Mutation Analysis for SQL Database Applications." In 2009 Fourth International Conference on Software Engineering Advances (ICSEA). IEEE, 2009. http://dx.doi.org/10.1109/icsea.2009.30.

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Zhou, Chixiang, and Phyllis Frankl. "Mutation Testing for Java Database Applications." In 2009 International Conference on Software Testing Verification and Validation (ICST). IEEE, 2009. http://dx.doi.org/10.1109/icst.2009.43.

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McMinn, Phil, Gregory M. Kapfhammer, and Chris J. Wright. "Virtual mutation analysis of relational database schemas." In the 11th International Workshop. ACM Press, 2016. http://dx.doi.org/10.1145/2896921.2896933.

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Toledo, Ludmila I., Celso G. Camilo, and Cassio Leonardo Rodrigues. "MutShrink: a Mutation-based Test Database Shrinking Method." In 2020 IEEE International Conference on Systems, Man, and Cybernetics (SMC). IEEE, 2020. http://dx.doi.org/10.1109/smc42975.2020.9283198.

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Pant, Millie, Radha Thangaraj, and Ajith Abraham. "Particle Swarm Optimization Using Adaptive Mutation." In 2008 19th International Conference on Database and Expert Systems Applications (DEXA). IEEE, 2008. http://dx.doi.org/10.1109/dexa.2008.70.

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Pan, Kai, Xintao Wu, and Tao Xie. "Automatic test generation for mutation testing on database applications." In 2013 8th International Workshop on Automation of Software Test (AST). IEEE, 2013. http://dx.doi.org/10.1109/iwast.2013.6595801.

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Shahriar, Hossain, and Sheetal Batchu. "Towards mutation-based testing of column-oriented database queries." In the 2014 ACM Southeast Regional Conference. ACM Press, 2014. http://dx.doi.org/10.1145/2638404.2638470.

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McCormick, Donald W., William B. Frakes, and Reghu Anguswamy. "A comparison of database fault detection capabilities using mutation testing." In the ACM-IEEE international symposium. ACM Press, 2012. http://dx.doi.org/10.1145/2372251.2372310.

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Rapports d'organisations sur le sujet "Mutation database"

Burns, Malcom, and Gavin Nixon. Literature review on analytical methods for the detection of precision bred products. Food Standards Agency, 2023. http://dx.doi.org/10.46756/sci.fsa.ney927.

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The Genetic Technology (Precision Breeding) Act (England) aims to develop a science-based process for the regulation and authorisation of precision bred organisms (PBOs). PBOs are created by genetic technologies but exhibit changes which could have occurred through traditional processes. This current review, commissioned by the Food Standards Agency (FSA), aims to clarify existing terminologies, explore viable methods for the detection, identification, and quantification of products of precision breeding techniques, address and identify potential solutions to the analytical challenges presente

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Juvik, John A., Avri Bar Zur, and Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, 1993. http://dx.doi.org/10.32747/1993.7568764.bard.

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Recently, the vegetable corn industry has shifted from the use of traditional cultivars with the sugary1 (su1) endosperm mutation to newer hybrids homozygous for the shrunken2 (sh2) or sugary enhancer1 (se1) genes. With greater kernel sucrose content, these hybrids are preferred by consumers and retain sugar for longer post harvest periods, providing the industry with more time to marker products with superior quality. Commercialization has been hindered, however, by reduced field emergence, and the establishment of stands with heterogeneous uniformity and maturities. This investigation was co

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Zhao, Lili, Tao Li, Meijuan Dang, et al. Association of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism with ischemic stroke risk in different populations: an updated meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.11.0037.

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Review question / Objective: Recently, increasing evidence has implicated methylenetetrahydrofolate reductase (MTHFR) gene mutation as a risk factor for ischemic stroke (IS) in the general population. However, studies have been inconclusive and lack evidence on specific populations. We aim to determine whether the MTHFR C677T variant is linked to an increased risk of IS in different age groups andregions. Information sources: A systematic search of PubMed, EMBASE, Cochrane Library, Web of Science, and CNKI databases for relevant observational studies will be undertaken.

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Gelb, Jr., Jack, Yoram Weisman, Brian Ladman, and Rosie Meir. Identification of Avian Infectious Brochitis Virus Variant Serotypes and Subtypes by PCR Product Cycle Sequencing for the Rational Selection of Effective Vaccines. United States Department of Agriculture, 2003. http://dx.doi.org/10.32747/2003.7586470.bard.

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Objectives 1. Determine the serotypic identities of 40 recent IBV isolates from commercial chickens raised in the USA and Israel. 2. Sequence all IBV field isolates using PCR product cycle sequencing and analyze their S 1 sequence to detennine their homology to other strains in the Genbank and EMBL databases. 3. Select vaccinal strains with the highest S 1 sequence homology to the field isolates and perform challenge of immunity studies in chickens in laboratory trials to detennine level of protection afforded by the vaccines. Background Infectious bronchitis (IB) is a common, economically imp

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Rodriguez Muxica, Natalia. Open configuration options Bioinformatics for Researchers in Life Sciences: Tools and Learning Resources. Inter-American Development Bank, 2022. http://dx.doi.org/10.18235/0003982.

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The COVID-19 pandemic has shown that bioinformatics--a multidisciplinary field that combines biological knowledge with computer programming concerned with the acquisition, storage, analysis, and dissemination of biological data--has a fundamental role in scientific research strategies in all disciplines involved in fighting the virus and its variants. It aids in sequencing and annotating genomes and their observed mutations; analyzing gene and protein expression; simulation and modeling of DNA, RNA, proteins and biomolecular interactions; and mining of biological literature, among many other c

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Friedman, Haya, Julia Vrebalov, James Giovannoni, and Edna Pesis. Unravelling the Mode of Action of Ripening-Specific MADS-box Genes for Development of Tools to Improve Banana Fruit Shelf-life and Quality. United States Department of Agriculture, 2010. http://dx.doi.org/10.32747/2010.7592116.bard.

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Fruit deterioration is a consequence of a genetically-determined fruit ripening and senescence programs, in which developmental factors lead to a climacteric rise of ethylene production in ethylene-sensitive fruits such as tomato and banana. Breeding of tomato with extended fruit shelf life involves the incorporation of a mutation in RIN, a MADS-box transcription factor participating in developmental control signalling of ripening. The RIN mode of action is not fully understood, and it may be predicted to interact with other MADS-box genes to execute its effects. The overall goal of this study

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