A high throughput approach - Semantic Scholar

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a Department of Molecular & Human Genetics, One Baylor Plaza, Houston, TX, United States ... In this protocol we used the custom designed Baylor College of ..... We used both Agilent software package and a custom ... [12] S.W. Cheung, et al., Development and validation of a CGH microarray for clinical cytogenetic ...
MethodsX 3 (2016) 8–18

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MethodsX jou rnal homep age : www.elsevier.com/locate/me x

Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach Mohammad Haeri a,b,*, Violet Gelowani a, Arthur L. Beaudet a a

Department of Molecular & Human Genetics, One Baylor Plaza, Houston, TX, United States Department of Pathology & Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States

b

A B S T R A C T

Pathological copy number variants (CNVs) and point mutations are major genetic causes of hundreds of disorders. Comparative genomic hybridization (CGH) also known as chromosomal microarray analysis (CMA) is the best available tool to detect copy number variations in chromosomal make up. We have optimized several different protocols and introduce a high-throughput approach to perform a cost-effective, fast, high-throughput and high-quality CMA. We managed to reach to high quality arrays with 17 0.04 (mean  SD, n = 90) Derivative Log Ratio (DLR) spread, a measure of array quality (