Title |
8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations
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Published in |
BMC Genomics, January 2014
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DOI | 10.1186/1471-2164-15-64 |
Pubmed ID | |
Authors |
Xianghong Zhang, Sebastian Müller, Michael Möller, Klaus Huse, Stefan Taudien, Malte Book, Frank Stuber, Matthias Platzer, Marco Groth |
Abstract |
The copy number variation (CNV) in beta-defensin genes (DEFB) on human chromosome 8p23 has been proposed to contribute to the phenotypic differences in inflammatory diseases. However, determination of exact DEFB CN is a major challenge in association studies. Quantitative real-time PCR (qPCR), paralog ratio tests (PRT) and multiplex ligation-dependent probe amplification (MLPA) have been extensively used to determine DEFB CN in different laboratories, but inter-method inconsistencies were observed frequently. In this study we asked which one is superior among the three methods for DEFB CN determination. |
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