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We noted that, GBMs do exhibit a different mutation spectrum for some genes compared to other tumor types.
We have determined the p16 mutation spectrum for a cohort of 304 patients with Barrett's esophagus, a premalignant condition that predisposes to the development of esophageal adenocarcinoma.
It is interesting to note that this pattern could arise, as noted above, from stabilizing selection for an optimal secondary structure, which secondarily would result in a functionally biased mutation spectrum for RNA or DNA coding for proteins.
In Africa the prevalence of CF is low and the mutation spectrum for CF in African populations has been shown to be different than that in European populations (Carles et al. 1996; Goldman et al. 2001; Padoa et al. 1999).
As shown in Additional file 1: Figure S12, the results of our simulations demonstrated that sequencing approximately 100 mutants from a mouse provides an 80%% power to obtain the true mutation spectrum for that individual (P < 0.05).
These assayed lysates should be easily large enough to harbor rare spontaneous mutants; although the mutation rate and mutation spectrum for 45°C heat-shock resistance are unknown in φ6, we can expect between 10-4 and 10-6 particleshouldld contain a point mutation for resistance to a selective challenge such as growth on a novel host [ 21, 35].
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In addition, this work takes a powerful approach to defining mutation spectra for mutator alleles: whole-genome sequencing.
In contrast, only independent mutations were used to determine the lacZ mutation spectra for both groups.
To further test the accuracy of our NGS data, we compared the control and BaP-induced bone marrow lacZ mutation spectrum with published mutation spectra for transgene reporters from control and BaP-treated mice.
We compiled the mutation spectra for all mutations that significantly affected the strengths of donor and acceptor splice sites and compared these with the average information contents at each position.
Therefore, geographical variation may account for differences in the mutation spectrum of BRAF, as observed for MMR genes (Wei et al, 2003; Lee et al, 2005; Goldberg et al, 2008).
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