Enhancer chip: detecting human copy number variations in regulatory elements.

Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease. In fact, various disorders, such as thalassaemias, preaxial polydactyly or susceptibili...

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Main Authors: Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0052264&type=printable
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