Clinical Chemistry
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Clinical Chemistry 51: 8, 2005; 10.1373/clinchem.2004.042762
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(Clinical Chemistry. 2005;51:8.)
© 2005 American Association for Clinical Chemistry, Inc.

Editorials

Genotype-Phenotype Correlations: Assessing the Influence of Sequence Variants on the Clinical Phenotype

Lawrence M. Silvermana and Mani S. Mahadevan

Department of Pathology, University of Virginia Health Sciences Center, Charlottesville, VA 22908

aAuthor for correspondence. Fax 434-924-8307; e-mail lms7r@virginia.edu.

The first 20% of the full text of this article appears below.

It used to be simple. Physicians observed patients, asked questions, examined them, and established a defined clinical phenotype. Sometimes a laboratory analyte, with a sufficient and significant correlation with the observed clinical phenotype, could be measured to provide a basis for hypothesis-driven approaches to disease pathogenesis. Two classic examples of diseases are cystic fibrosis (CF), which is associated with increased sweat chloride concentrations, and diabetes mellitus, which is associated with increased glucose. The road to gene discovery has been considered tractable for CF because of its inheritance pattern, whereas diabetes has been considered a polygenic disorder quite intractable to such approaches.

. . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
L. M. Silverman and T. M. Mifflin
Genotype-Phenotype Correlations (II): Assessing the Influence of Sequence Variants on the Clinical Phenotype in Multifactorial Disorders
Clin. Chem., June 1, 2005; 51(6): 929 - 930.
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