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Clinical Application of Whole-Genome Sequencing

Clinical Application of Whole-Genome Sequencing Opinion Editorials represent the opinions of the authors and JAMA EDITORIAL and not those of the American Medical Association. Proceed With Care William Gregory Feero, MD, PhD Stunning advances have been made over the last 5 years in the pipeline. There are several notable aspects to this article, the ability to rapidly and inexpensively detect variation in the hu- 2 most outstanding of which are that the participants under- man genome. In the mid-2000s massively parallel detection went clinical WGS rather than WES and the level of self- of single-nucleotide polymor- revelatory reporting by the authors regarding potential phisms (SNPs) on gene chips sources of error in the pipeline. (genotyping) burst on to the The most obvious feature of WGS is that it substantially Related article page 1035 scene, launching the era of increases the volume of detected variants per individual. In genome-wide association studies and high-profile direct-to- contrast to WES, WGS captures genomic variations within consumer marketing of genetic testing of questionable clini- and outside of the exome. To date, only a comparatively cal value. More recently, substantial credible evidence has small subset of these variations have demonstrated health been accumulating for the research and clinical value of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Clinical Application of Whole-Genome Sequencing

JAMA , Volume 311 (10) – Mar 12, 2014

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Publisher
American Medical Association
Copyright
Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2014.1718
pmid
24618961
Publisher site
See Article on Publisher Site

Abstract

Opinion Editorials represent the opinions of the authors and JAMA EDITORIAL and not those of the American Medical Association. Proceed With Care William Gregory Feero, MD, PhD Stunning advances have been made over the last 5 years in the pipeline. There are several notable aspects to this article, the ability to rapidly and inexpensively detect variation in the hu- 2 most outstanding of which are that the participants under- man genome. In the mid-2000s massively parallel detection went clinical WGS rather than WES and the level of self- of single-nucleotide polymor- revelatory reporting by the authors regarding potential phisms (SNPs) on gene chips sources of error in the pipeline. (genotyping) burst on to the The most obvious feature of WGS is that it substantially Related article page 1035 scene, launching the era of increases the volume of detected variants per individual. In genome-wide association studies and high-profile direct-to- contrast to WES, WGS captures genomic variations within consumer marketing of genetic testing of questionable clini- and outside of the exome. To date, only a comparatively cal value. More recently, substantial credible evidence has small subset of these variations have demonstrated health been accumulating for the research and clinical value of

Journal

JAMAAmerican Medical Association

Published: Mar 12, 2014

References