Sentence examples for single gene tests from inspiring English sources
In our results, we identify important genes with relative large p-values from single gene tests.
Moreover, this approach is also successful in the case when the observed frequencies of passenger and driver mutations are indistinguishable, a situation where single gene tests fail.
The variant classification approach described in this paper is meant to be applicable to variants in all Mendelian genes whether identified by single gene tests, multi-gene panels, exome sequencing or genome sequencing.
The cost for other single gene tests (other than the PMP22 duplication testing) was not any less expensive than the cost of performing an NGS multigene panel based on current cost information.
The current use of multiple single gene tests is untenable given this complexity, particularly in the presence of a growing number of targeted therapies, constrained resources, and limited tissue availability.
An alternative to single gene tests is to test the recurrence of mutations in groups of genes derived from known pathways [ 7, 8] or genome-scale gene interaction networks [ 9, 10].
Consistent with this, we found a greater proportion of associations for the pathway phenotypes than using single gene tests using this same dataset (Glass et al. 2013; 23% compared with 7% of phenotypes are significantly associated with age when using the same 0.05 FDR threshold adopted in that article).
Extreme genetic heterogeneity along with remarkable variation in the distribution of causative variants across in different ethnicities makes single gene testing inefficient for hearing loss.
The chief medical officer for England, Prof Dame Sally Davies, said: "Single gene testing is already available across the NHS ranging from diagnosing cancers to assessing patients' risk of suffering side effects from treatment.
Different expectations apply to WES/WGS than targeted panels or single gene testing.
The single gene testing can be diagnostic only in patients with most recognizable disorders.
