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Genomics Technology in Clinical Diagnostics 

Genomics Technology in Clinical Diagnostics
Chapter:
Genomics Technology in Clinical Diagnostics
Author(s):

Kevin White

and Jeremy Segal

DOI:
10.1093/med/9780199896028.003.0010
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date: 14 December 2018

During the last two decades, and especially since the completion of the Human Genome Project, unprecedented expansion of molecular genetics capabilities has made a huge impact in genetic diagnosis research and clinical diagnosis. While certain advances arose out of the demands of the project itself, others have only been made possible because of its successful outcome. The completion of the project represents much more than just an achievement or a milestone. In fact, the sequence itself has become one of the most important and frequently used tools available to human genetics researchers and clinicians and genetic laboratories. Many of the newer genomics technologies currently used (array comparative genomic hybridization, exome genome sequencing and whole genome sequencing) relied on genomics data for their creation, and others (particularly next generation sequencing) are dependent on the human genome sequence to perform basic analyses.

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