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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Prenat Med
Egile Nagusiak: Russo, Claudio Dello, Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Mangiafico, Lucia, Mesoraca, Alvaro, D’Emidio, Laura, McCluskey, Megan R., Paganelli, Arianna, Giorlandino, Claudio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: CIC Edizioni Internazionali 2014
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510565/
https://ncbi.nlm.nih.gov/pubmed/26266003
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