Improving the Semantics of a Conceptual Schema of the Human Genome by Incorporating the Modeling of SNPs
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Oscar Pastor | Ana M. Levin | Juan Carlos Casamayor | Matilde Celma | Matthijs van der Kroon | Ó. Pastor | M. Celma | A. M. Levin | J. C. Casamayor | M. Kroon
[1] Amedeo Napoli,et al. SNP-Converter: An Ontology-Based Solution to Reconcile Heterogeneous SNP Descriptions for Pharmacogenomic Studies , 2006, DILS.
[2] N Risch,et al. The Future of Genetic Studies of Complex Human Diseases , 1996, Science.
[3] N. Risch,et al. A comparison of linkage disequilibrium measures for fine-scale mapping. , 1995, Genomics.
[4] Russ B. Altman,et al. MutDB: annotating human variation with functionally relevant data , 2003, Bioinform..
[5] Christian S. Jensen,et al. Capturing Temporal Constraints in Temporal ER Models , 2008, ER.
[6] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[7] B. Shastry. SNPs: impact on gene function and phenotype. , 2009, Methods in molecular biology.
[8] Toshihiro Tanaka. The International HapMap Project , 2003, Nature.
[9] J. Moult,et al. Identification and analysis of deleterious human SNPs. , 2006, Journal of molecular biology.
[10] Carole A. Goble,et al. Conceptual modelling of genomic information , 2000, Bioinform..
[11] Oscar Pastor,et al. Enforcing Conceptual Modeling to improve the understanding of human genome , 2010, 2010 Fourth International Conference on Research Challenges in Information Science (RCIS).
[12] Oscar Pastor,et al. Model-driven architecture in practice - a software production environment based on conceptual modeling , 2007 .
[13] A. Vignal,et al. A review on SNP and other types of molecular markers and their use in animal genetics , 2002, Genetics Selection Evolution.
[14] Mathew W. Wright,et al. The HUGO Gene Nomenclature Committee (HGNC) , 2001, Human Genetics.
[15] Timothy B. Stockwell,et al. The Sequence of the Human Genome , 2001, Science.
[16] Wen-Hsiung Li,et al. Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications , 2005, Journal of Molecular Evolution.
[17] Zhongming Zhao,et al. Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution. , 2003, Gene.
[18] W S Watkins,et al. Population genomics: a bridge from evolutionary history to genetic medicine. , 2001, Human molecular genetics.
[19] Zhaohui S. Qin,et al. A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.
[20] Oscar Pastor,et al. Conceptual Modeling of Human Genome Mutations - A Dichotomy Between what we Have and What we Should Have , 2010, BIOINFORMATICS.
[21] Oscar Pastor,et al. Conceptual Modeling Meets the Human Genome , 2008, ER.
[22] Daniel Bayer,et al. SNPtoGO: characterizing SNPs by enriched GO terms , 2008, Bioinform..
[23] T. Tatusova,et al. Entrez Gene: gene-centered information at NCBI , 2006, Nucleic Acids Res..
[24] Helen Pearson,et al. Genetics: What is a gene? , 2006, Nature.
[25] Henrik Kaessmann,et al. DNA sequence variation in a non-coding region of low recombination on the human X chromosome , 1999, Nature Genetics.
[26] Jürgen Jost,et al. Gene and genon concept: coding versus regulation , 2007, Theory in Biosciences.
[27] Zhongming Zhao,et al. Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome. , 2002, Genome research.
[28] L. Jin,et al. Worldwide Dna Sequence Variation in a 10-kilobase Noncoding Region on Human Chromosome 22 Materials and Methods Dna Samples. Sixty-four Individuals Were Collected Worldwide from 16 Populations in Four Major Geographic Areas, including 20 , 2022 .
[29] Alain Viari,et al. Imagene: an integrated computer environment for sequence annotation and analysis , 1999, Bioinform..
[30] Bruce Alberts,et al. Essential Cell Biology , 1983 .
[31] Takuro Tamura,et al. Formal design and implementation of an improved DDBJ DNA database with a new schema and object-oriented library , 1998, Bioinform..
[32] Csilla Szabo,et al. The Breast Cancer Information Core: Database design, structure, and scope , 2000, Human mutation.
[33] Evelyn Camon,et al. The EMBL Nucleotide Sequence Database , 2000, Nucleic Acids Res..
[34] M. Gerstein,et al. What is a gene, post-ENCODE? History and updated definition. , 2007, Genome research.
[35] P. Stenson,et al. The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.
[36] I-Min A. Chen,et al. Modeling scientific experiments with an object data model , 1995, Proceedings of the Eleventh International Conference on Data Engineering.
[37] Bran Selic,et al. The Pragmatics of Model-Driven Development , 2003, IEEE Softw..