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TP53 aberrations were observed in three patients, including deletion and/or mutation, across all disease sites in Patient 8 (Additional file 6: Figure S2), who did not harbor a histone mutation, suggesting TP53 as a potential driver.
Studies to date using PCR and capillary sequencing have essentially revealed that although many hundreds of genes are sequenced, only a handful attain significant levels of mutation across all samples studied.
To estimate the background mutation rate for insertions and deletions (indels), which are non-silent, however, we included in our estimation genes which have at most one non-silent mutation across all tumor samples; these genes are not likely to be related to tumorigenesis and thus the non-silent mutations in these genes are likely to be passenger mutations.
Let K denote the subset of positions of the base pairs belonging to the genes used for silent mutation detection and let L denote the subset of positions of the base pairs belonging to the genes which have at most one non-silent mutation across all samples.
Finally, the background probability b jg that a gene g is mutated in sample j under the background model (i.e. given g is a passenger) is approximated by summing the probability of a background mutation across all base pairs in the gene.
A propagation of this mutation across all the strains merely through early formation can be excluded, as at the time of single clone isolation the monoclonal strains A6 and H2 did not contain it.
Similar(54)
To achieve the ultimate goal of distinguishing driver mutations from passenger mutations, one approach is to sequence many cancer samples and then identify the highly mutated genes and/or the recurrent mutations across all of the samples.
Here, our algorithm outperforms SIFT, PolyPhen-2 and Mutation Assessor across all mutation datasets.
Marchena in 2004), two separate simulations of 10,000 replicates were performed using the number of mutations across all sequences and θ (2Nefμ; estimated from k, the average number of nucleotide differences between sequences).
The overall ratio of transition over transversion mutations across all five isolates was 2.30 ± 0.17.
There were 312 unique positions validated as somatic mutations across all patients in this study.
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