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Array-based Identification of Copy Number Changes in a Diagnostic Setting : Simultaneous gene-focused and low resolution whole human genome analysis

Objectives: The aim of this study was to develop and validate a comparative genomic hybridisation (CGH) array that would allow simultaneous targeted analysis of a panel of disease genes and low resolution whole genome analysis. Methods: A bespoke Roche NimbleGen 12x135K CGH array (Roche NimbleGen In...

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Principais autores: Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Love, Chuan-Ching Lan, Alice M. George, Anthony Thrush, Donald R. Love
Formato: Artigo
Idioma:Inglês
Publicado em: Sultan Qaboos University 2013-02-01
coleção:Sultan Qaboos University Medical Journal
Assuntos:
array comparative genomic hybridization (acgh)
gene dosage
copy number variants (cnvs)
dna microarray
molecular diagnosis.
Acesso em linha:https://journals.squ.edu.om/index.php/squmj/article/view/1745
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