Stunning advances have been made over the last 5 years in the ability to rapidly and inexpensively detect variation in the human genome. In the mid-2000s massively parallel detection of single-nucleotide polymorphisms (SNPs) on gene chips (genotyping) burst on to the scene, launching the era of genome-wide association studies and high-profile direct-to-consumer marketing of genetic testing of questionable clinical value.1 More recently, substantial credible evidence has been accumulating for the research and clinical value of whole-exome sequencing (WES) for conditions ranging from cancer to developmental delay to mendelian disorders.2- 5 Whole-exome sequencing uses high-throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual’s genome, also known as the exome. As remarkable as SNP genotyping and WES technologies are, they are both interim methods for detecting DNA variation. Assuming perfect technical accuracy, both are limited in the extent of variation that they can discover in a patient. In the case of SNP genotyping, this is because of the type of known variations the platforms can detect and in WES because the exome comprises about 1% of the entire genome.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 4
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
All results at
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.