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