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Exact(6)
In grades II and III gliomas, IDH2 mutations were overrepresented in oligodendrogliomas (22 IDH2 mutations out of 330 IDH mutated tumors; 6.7%), compared to astrocytomas (1/60; 1.7%) and mixed gliomas (6/176; 3.4%) (P = 0.049).
Similarly, K-Ras mutations were overrepresented in tumours with lymph-node metastasis (N1 and 2) compared with lymph node-negative (N0) tumours (38.3 vs 25.5%, P=0.03).
If lab-neutral mutations were overrepresented at ultra-conserved positions, this might explain the reduced accuracy of computational tools for lab-neutral mutations as well.
In contrast to studies in Africa and Arab patients, KLF1 mutations were overrepresented in a southern Chinese population with β thalassemia [ 95].
The fact that MSH6 mutations were overrepresented among patients with breast carcinomas (7/23, 30%) versus other tumors (4/105, 4%) might have some influence on the results since the percentage of MMR-deficient breast carcinomas was lower among MSH6 than MSH2 or MLH1 mutation carriers (Table 2).
For the GCA trinucleotide group, C → A mutations were overrepresented relative to the mutational spectrum (18 of 22 mutations were C → A, 11 were expected; X = 8.91, P = 0.011).
Similar(54)
Hence, the frequency propagator statistics under clonal interference implies that beneficial mutations are overrepresented, compared to neutral mutations, on the trunk as well as close to the trunk.
In particular, the authors observed that variants leading to amino-acid changes (non-synonymous mutations) are overrepresented among SNPs showing high level of FST.
A high z-score would suggest that a given mutation was overrepresented in the population and correlated with drug treatment or passage.
However, 4 mutations (nucleotides 1762, 3067 and 1896, 1899) were overrepresented (60 100%) in the cases of fulminant hepatitis compared to the chronic carriers.
Although we find a marginally significant positive effect of recombination rate with polymorphic insertions, other expected patterns, assuming recombination promotes insertions but not deletions, such as a significant interaction term between indel type and number of AT to GC mutations (AT to GC mutations should be overrepresented in regions with high recombination rate [22]), are absent (Table 5).
Related(14)
variants were overrepresented
mutations were hitherto
mutations were found
mutations were identified
mutations were selected
mutations were described
mutations were detected
mutations were analyzed
mutations were eliminated
mutations were verified
mutations were confirmed
mutations were observed
mutations were made
mutations were created
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