Genomic testing & Precision medicine : Bigger Is Better

Content Provider	Semantic Scholar
Author	Elemento, Olivier Rubin, Mark A.
Copyright Year	2016
Abstract	A s we enter a new era of precision medicine, genomic testing is becoming mainstream yet continues to rapidly evolve driven by clinical needs, availability of new therapies, and technological advances. In parallel with each large-scale genomic study performed, more and more potential candidate genes linked to clinical phenotypes are discovered. Such pressures are inexorably pushing genomic testing toward platforms that can test a wider spectrum of genes. As a result, whole exome sequencing (WES) is emerging as an attractive platform of choice for a variety of clinical genomic testing applications due its relative affordability and extensive coverage of a rapidly and continuously growing number of clinically relevant genes. As a reminder, WES refers to technologies that effectively capture DNA mapping to coding genes in the genome and only sequence such regions. In the germline testing arena (sequencing somebody’s inherited DNA), WES is used routinely to help provide a molecular diagnostic for diseases with a likely genetic cause. A variety of academic centers and companies offer clinical WES services. Rigorous analyses have
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://ipm.weill.cornell.edu/sites/default/files/genomic_testing_precision_medicine_bigger_is.19.pdf
Language	English
Access Restriction	Open
Subject Keyword	Biopolymer Sequencing Candidate Disease Gene Greater Phenotype Precision medicine Whole Exome Sequencing
Content Type	Text
Resource Type	Article