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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...

詳細記述

保存先:
書誌詳細
出版年:J Prenat Med
主要な著者: Russo, Claudio Dello, Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Mangiafico, Lucia, Mesoraca, Alvaro, D’Emidio, Laura, McCluskey, Megan R., Paganelli, Arianna, Giorlandino, Claudio
フォーマット: Artigo
言語:Inglês
出版事項: CIC Edizioni Internazionali 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510565/
https://ncbi.nlm.nih.gov/pubmed/26266003
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