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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.
Different expectations apply to WES/WGS than targeted panels or single gene testing.
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.
The single gene testing can be diagnostic only in patients with most recognizable disorders.
The first category includes single gene testing approaches such as fold change [ 1], rank product [ 2], t-test and its variants [ 3].
Finally, the REVEAL study focused on single gene testing for AD risk, and findings may not generalize well to contexts where multiple genes and multiple diseases are addressed.
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These are divided into tests of copy number variation (which platform, if performed); single genes tested with negative and inconclusive results, with a separate box for each gene, so that this is searchable; whole exome sequencing (presumably with low coverage depth and certainly no conclusive results); and other important tests.
In our results, we identify important genes with relative large p-values from single gene tests.
We show that a single gene test for driver genes is highly sensitive to the estimate of the BMR.
There are two difficulties with the identification of driver genes by a single gene test of recurrent mutation.
Two case-control studies showed a 5-105-10%rease in cessation with a single gene test of small effect [ 11, 12].
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