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The mutations are exactly the type caused by exposure to ultraviolet light, indicating they might be among the first DNA changes in a cell's path to melanoma.
The functions significantly affected by cancer mutations are exactly overlapping those of known cancer genes, with the critical exception for the absence of tyrosine kinases, as expected for a recessive gene-set.
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Another advantage of InDel markers is the improbability of two InDel mutations being exactly the same length and at the same genomic position.
Taking into account the mutation signature and amino acid composition of the mitochondrial genome, the overall ratio of nonsense mutations to silent mutations is exactly that expected by chance (dNonsense/dS = 1.004; 95% confidence interval, 0.699 1.443; p = 0.98).
When summarizing these results, the incidence of DNMT3A nonsynonymous variations was calculated to be 7/39 (17.9%) in the first study cohort and finally estimated to be 10/67 (14.9%) when adding data from 28 patients in the second study cohort, and the frequency of DNMT3A R882 mutations was exactly calculated to be 5/67 (7.5%).
Interestingly the mutation is exactly in the middle of the loop, at a site readily accessible for interaction with other molecules.
The results of the double mutations are almost exactly as we expected based on our calculations, as shown in Fig. 7 b.
COLO-818 is one of the two cell lines from Table 1 which does not have sequencing data in COSMIC, this cell line mRNA was sequenced by (Klijn et al., 2015) and it was found to contain C135R TP53 mutation, this is exactly the same mutation as listed for COLO-818 in Table 1.
These are exactly the places where one would expect deleterious missense mutations most likely to occur.
Both contracts are exactly solved.
Thus, we expect that the genes in a pathway exhibit a pattern of mutually exclusive driver mutations, where driver mutations are observed in exactly one gene in the pathway in each patient [ 13].
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