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

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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Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 8(2014), 3-4 vom: 05. Apr., Seite 57-69
1. Verfasser: Russo, Claudio Dello (VerfasserIn)
Weitere Verfasser: Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Mangiafico, Lucia, Mesoraca, Alvaro, D'Emidio, Laura, McCluskey, Megan R, Paganelli, Arianna, Giorlandino, Claudio
Format: Aufsatz
Sprache:English
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports Copy Number Variation (CNV) next generation sequencing prenatal diagnosis