MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives |
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Authors: | Varga Rita-Eva Mumtaz Rizwan Jahic Amir Rudenskaya Galina E Sánchez-Ferrero Elena Auer-Grumbach Michaela Hübner Christian A Beetz Christian |
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Institution: | Department of Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany. |
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Abstract: | Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for identifying copy number mutations in diagnostic and research settings. The occurrence of false-positive deletion findings and the underlying causes are well recognized, whereas false-positive duplication/amplification findings have not been appreciated so far. We here present three pertinent cases which were only identified on extended, nonstandard secondary analyses. We also offer and experimentally validate a potential explanation. Our findings imply that MLPA data indicating gain of genomic sequence require validation on an independent sample or by an independent method. |
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