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Mining OMIM for insight into complex diseases.


ABSTRACT: Understanding clinical phenotypes through their corresponding genotypes is one of the principal goals of genetic research. Though achieving this goal is relatively simple with single gene syndromes, more complex diseases often consist of varied clinical phenotypes that may be the result of interactions among multiple genetic loci. Microarray technology has brought the phenotype -genotype relationship to the molecular level, using differently behaving cancers, for example, as the basis for comparing patterns of gene expression. With this feasibility study, we attempted to use similar methods of analysis at the clinical level, in order to evaluate our hypothesis that the clustering of clinical phenotypes would provide information that would be useful in elucidating their underlying genotypes

SUBMITTER: Cantor MN 

PROVIDER: S-EPMC2883183 | biostudies-literature | 2004

REPOSITORIES: biostudies-literature

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