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Article

An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs.

Gene - 10 Aug 2014

Marcinkowska-Swojak Malgorzata, Klonowska Katarzyna, Figlerowicz Marek, Kozlowski Piotr

Abstract excerpt

Copy number variation has recently been recognized as an important type of genetic variation that modifies human phenotypes. Copy number variants (CNVs) are being increasingly associated with various human phenotypes and diseases. However, the lack of an appropriate method that allows fast, inexpensive and, most importantly, accurate CNVs genotyping significantly hampers CNV analysis. This limitation especially...

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PMID: 24942243
DOI: 10.1016/j.gene.2014.05.072

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