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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Bibliographic Details
Published in:J Prenat Med
Main Authors: Russo, Claudio Dello, Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Mangiafico, Lucia, Mesoraca, Alvaro, D’Emidio, Laura, McCluskey, Megan R., Paganelli, Arianna, Giorlandino, Claudio
Format: Artigo
Language:Inglês
Published: CIC Edizioni Internazionali 2014
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510565/
https://ncbi.nlm.nih.gov/pubmed/26266003
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