Duplication and deletion analysis by fluorescent real-time PCR-based genotyping.

Abstract excerpt

BACKGROUND: Gene dosage determination is an increasingly important field for the study of genome variation and organization. In parallel, the advances in our understanding of the genetic basis of disease have produced an exponential increase in the demand for molecular diagnostic analyses. Although efforts have been spent on increasing both the accuracy and the throughput of the gene dosage analysis, the success...

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