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Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number Variants

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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Abstract

Two revolutionary advances in molecular biology have enabled scanning of the entire human genome for genetic variation: 1. Array-comparative genomic hybridization-microarray analysis (aCGH, CMA, microarray analysis, referred to henceforth as aCGH) that identifies altered DNA dosage. 2. Whole genome or exome sequencing (WGS or WES) that identifies nucleotide sequence changes.

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Authors and Affiliations

  1. Genesys Diagnostics, Inc., Oakdale, CT, USA

    Herman E. Wyandt

  2. Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Golder N. Wilson

  3. Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Vijay S. Tonk

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  1. Herman E. Wyandt
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  2. Golder N. Wilson
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  3. Vijay S. Tonk
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Correspondence to Herman E. Wyandt .

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Wyandt, H.E., Wilson, G.N., Tonk, V.S. (2017). Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number Variants. In: Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer, Singapore. https://doi.org/10.1007/978-981-10-3035-2_9

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