Consumers could obtain exome data at a cost of $ 999 . The company provided raw data, and did not offer analysis.
22.
In 2012, a human genetic disorder involving mutations in the " NGLY1 " gene locus was identified through an exome analysis.
23.
He chose whole genome sequencing because he expects the more limited exome sequencing will not be a relevant technological approach in the long term.
24.
The genetic events found in ductal adenocarcinoma have been well characterized, and complete exome sequencing has been done for the common types of tumor.
25.
She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population.
26.
Cancer genome sequencing is not limited to WG sequencing and can also include exome, transcriptome, micronome sequencing, and end-sequence profiling.
27.
Exome sequencing revealed an unexpected well-conserved recessive mutation in a gene called SLC26A3 which is associated with congenital chloride diarrhea ( CLD ).
28.
The first laboratory to offer a WES diagnostic service for clinicians, including medical interpretation, was Ambry Genetics with the " Clinical Diagnostic Exome"
29.
As of 2014, full exome sequencing was offered by Gentle for less than $ 2, 000, including personal counseling along with the results.
30.
This example provided proof of concept of the use of whole-exome sequencing as a clinical tool in evaluation of patients with undiagnosed genetic illnesses.
