Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw 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
Web of Science
PubMed
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FullText_MUG
- Co-Autor*innen der 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