Article
Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.
Clinica chimica acta; international journal of clinical chemistry - 23 Oct 2015
Saxena Sonal, Gowdhaman Kavitha, Kkani Poornima, Vennapusa Bhavyasri, Rama Subramanian Chellamuthu, Ganesh Kumar S, Mohan Kommu Naga
Abstract excerpt
BACKGROUND: In Multiplex Ligation-dependent Probe Amplification (MLPA), copy number variants (CNVs) for specific genes are identified after normalization of the amounts of PCR products from ligated reference probes hybridized to genomic regions that are ideally free from normal variation. However, we observed ambiguous calls for two reference probes in an investigation of the human 15q11.2 region by MLPA among 20...
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