Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening

BACKGROUND: prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in ord...

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Publié dans:	Journal of prenatal medicine. - 2007. - 8(2014), 3-4 vom: 05. Apr., Seite 57-69
Auteur principal:	Russo, Claudio Dello (Auteur)
Autres auteurs:	Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Mangiafico, Lucia, Mesoraca, Alvaro, D'Emidio, Laura, McCluskey, Megan R, Paganelli, Arianna, Giorlandino, Claudio
Format:	Article
Langue:	English
Publié:	2014
Accès à la collection:	Journal of prenatal medicine
Sujets:	Case Reports Journal Article Copy Number Variation (CNV) next generation sequencing prenatal diagnosis