Ontology-guided data preparation for discovering genotype-phenotype relationships
نویسندگان
چکیده
منابع مشابه
Visualizing genotype × phenotype relationships in the GAW15 simulated data
We have developed a graphical display tool called SIMLAPLOT for visualizing different ways in which continuous covariates may influence the genotype-specific risk for complex human diseases. The purpose of our study was to examine continuous covariates in the Genetic Analysis Workshop 15 simulated data set using our novel graphical display tool, with knowledge of the answers. The generated plot...
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An integrative view of diversity and singularity in the living world requires a better understanding of the intricate link between genotypes and phenotypes. Here we re-emphasize the old standpoint that the genotype-phenotype (GP) relationship is best viewed as a connection between two differences, one at the genetic level and one at the phenotypic level. As of today, predominant thinking in bio...
متن کاملIdentifying genotype-phenotype relationships in biomedical text
BACKGROUND One important type of information contained in biomedical research literature is the newly discovered relationships between phenotypes and genotypes. Because of the large quantity of literature, a reliable automatic system to identify this information for future curation is essential. Such a system provides important and up to date data for database construction and updating, and eve...
متن کاملGenotype-phenotype relationships in a cohort
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. D. Hubert, T. Bienvenu, N. Desmazes-Dufeu, I. Fajac, J. Lacronique, R. Matran, J.C. Kaplan, D.J. Dusser. ERS Journals Ltd 1996. ABSTRACT: In cystic fibrosis (CF), relationships between genotype and phenotype have been shown for pancreatic status but not for pulmonary disease. One hundred and ten adult CF patients w...
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Ontologies can convey domain semantics to various phases of a KDD application through a mapping established between ontology entities and columns of the data matrix. The approach implemented in the Ferda tool focuses on providing support for the data preparation phase. Information about important data values and column groupings, once injected into a domain ontology, can be repeatedly used for ...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2008
ISSN: 1471-2105
DOI: 10.1186/1471-2105-9-s4-s3