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• W2594173815 abstract "From banding and recognizing individual chromosomes for ‘chromosomal’ karyotyping with a resolution of about 5 to 10 megabase (Mb), to utilizing the array-based comparative genetic hybridization (aCGH) technology for ‘molecular’ karyotyping with a resolution of 10 kilobase (Kb) to 1 Mb, the application of molecular technologies onto cytogenetics has enhanced the analytical resolution and expanded the diagnostic capacity. Tools that have mediated these developments include (a) the assembly of the finished human genome sequence and the integration of genome-wide clone libraries into the genomic map, (b) the development of high-throughput microarray platforms, including spotting and in situ synthesis technologies, and (c) the optimization of aCGH protocols and development of software for data analysis. Together these developments have given rise to ‘molecular karyotyping’, a technology that allows a sensitive and specific detection of single copy number changes at the submicroscopic level throughout the entire human genome. This introductory chapter on genomic microarray technology provides a solid foundation for understanding the importance of this rapidly evolving class of genomic testing. The authors use real-life situations for microdeletion and microduplication detection, as well as subtelomeric rearrangement detection, in order to enable the reader to not only appreciate the significance of critical genes and copy number polymorphisms (CNPs), but to also personalize these examples with the symptoms behind their copy number variations (CNV), a correlation that is rarely observed by laboratory technologists. Because the molecular field is rapidly evolving, a list of resources for learning more about array-based comparative genomic hybridization (aCGH) methodologies is provided at the end of this chapter." @default.
• W2594173815 created "2017-03-16" @default.
• W2594173815 creator A5049270053 @default.
• W2594173815 creator A5055923908 @default.
• W2594173815 date "2017-03-04" @default.
• W2594173815 modified "2023-09-23" @default.
• W2594173815 title "Genomic microarray technologies for the cytogenetics laboratory" @default.
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