They suggested separating variants identified by exome
and genome sequencing into 3 separate "bins" designated (1) "clinically actionable," for variants linked to disease and which have a clinically established treatment or prevention associated with them, (2) "clinically valid but not directly actionable" for variants that may be clinically valid but are not medically actionable and variants that are associated with conditions for which there is no treatment and, (3) "unknown or no clinical significance" for variants that do not fall into the first 2 bins.
CHICAGO - A novel genomic analysis technique known as exome
analysis has pinpointed two previously unsuspected genes strongly related to platelet reactivity in patients on clopidogrel.
With support from the National Institutes of Health, researchers found those mutations through whole exome
sequencing -- a new gene scanning technology that cuts the cost and time of searching for rare mutations.
M2 PHARMA-April 23, 2018-Personal Genome Diagnostics Whole Exome
Analysis of TMB Helps Identify NSCLC Patients Likely to Benefit from Immuno-Oncology Treatment Before Surgery
Using newly designed sequencing primers, Sanger sequencing confirmed 17 of the NGS variants, and the remaining 2 variants had low quality scores from exome
(This used to be commonly referred to as "junk DNA," but the term is falling out of favor as we come to appreciate that it's likely to have useful or even critical functions not fully elucidated yet.) This 1% "exome
" is by far the most informative portion of the genome, with changes in every base pair being immediately analyzable in silico as silent, misense, or nonsense mutations (along with insertions, deletions, translocations, and other defect classes).
Compound Heterozygous Mutations in WDR62 Identified through Exome
Sequencing: Whole exome
sequencing revealed two rare, missense variants detected in heterozygous state in the WDR62 gene of this patient.
Keywords: Consanguinity, Intellectual disability, Neuroimaging, Seizures, Whole Exome
Prenatal genetic testing is boldly going to the next frontier: exome
The DNAnexus Platform has been used by scientists at the Regeneron Genetics Center as part of its effort to sequence, analyze, and deliver the exome
data of the UK Biobank study.