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Molecular Methods in Oncology: Genomic Analysis

  • Jason A. Jarzembowski
Chapter
Part of the Molecular Pathology Library book series (MPLB)

Abstract

Next-generation sequencing (NGS) and chromosomal microarrays represent major technological advances—elegant combinations of biochemistry and microfluidics and laser optics—used in brute force approaches that rely on advanced computing to assemble and align the data from thousands or millions of individual reactions. NGS solutions comprise a spectrum of methods to obtain DNA sequence data in a massively parallel and automated fashion, which are faster and more efficient than the linear sequencing approach of three decades ago. Microarrays allow the simultaneous interrogation of numerous probes or targets, using sequence complementarity testing to identify similarities or differences in the genome. NGS and array-based comparative genomic hybridization provide insights into the whole spectrum of DNA aberrations, from single base substitutions to large-scale chromosomal deletions, which in turn help physicians diagnose and treat human disease.

Keywords

Comparative genomic hybridization Microarray Mini-sequencing Next-generation sequencing Sanger sequencing Sequencing by oligonucleotide ligation and detection (SOLiD) Single-molecule real-time (SMRT) sequencing 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Division of Pediatric PathologyMedical College of WisconsinMilwaukeeUSA

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