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SHR Neuro Cancer Cardio Lipid Metab Microb

Varga, RE; Mumtaz, R; Jahic, A; Rudenskaya, GE; Snchez-Ferrero, E; Auer-Grumbach, M; Hübner, CA; Beetz, C.
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.
Anal Biochem. 2012; 421(2):799-801 Doi: 10.1016/j.ab.2011.12.002
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Co-authors Med Uni Graz: Auer-Grumbach Michaela
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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.
Find related publications in this database (using NLM MeSH Indexing): False Positive Reactions -; Gene Dosage -; Multiplex Polymerase Chain Reaction - methods; Sequence Deletion -
Find related publications in this database (Keywords): Amplification; Copy number gain; Duplication; False positive; MLPA