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Shi, J., Shibayama, A., Liu, Q., Nguyen, V.Q., Feng, J., Santos, M., Temudo, T., Maciel, P. and Sommer, S.S. (2005) Detection of heterozygous deletions and duplica- tions in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). Human Mutation, 25, 505. doi:10.1002/humu.9338

has been cited by the following article:

• TITLE: Ratio quantification of gene dosage by Agilent 2100 Bioanalyzer for detection of somatic gene deletions

  AUTHORS: Peter Hwu, Qiang Liu, Yafan Wang, Linling Chen, Yawen Cheng, Wanru Lin, Yun Yen

  KEYWORDS: Electrophoresis; Gene Deletion Detection; Agilent 2100 Bioanalyzer; RD-PCR; NSCLC

  JOURNAL NAME: Advances in Biological Chemistry, Vol.2 No.1, February 22, 2012

  ABSTRACT: We applied the Agilent 2100 Bioanalyzer, a microfluidics-based electrophoresis instrument, and introduced an accurate and consistent parameter, the relative product yield ratio (ROY), to detect somatic gene deletions in tumor cells. Briefly for such purpose, the Agilent 2100 Bioanalyzer quantified the ROY of a target gene to an endogenous internal control, both of which were initially co-amplified by Robust-Dosage PCR (RD- PCR). Herein, we extensively validated this approach. We first tested the effect of well positions on the Agilent DNA chip. We found that no matter which wells the samples were loaded in, the ROY was consistent with coefficient of variation (CV)