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Considered together, the mutation spectrum observed in IMPCs shows that, in addition to TP53 and PIK3CA mutations, some IMPCs harboured mutations in particular in genes involved in ciliogenesis, polarity maintenance and cell shape (often several such mutations per case).
Conversely, the KRAS mutation spectrum observed in S-MSS CRC was significantly more heterogeneous as all the substitutions G>A, G>T, and G>C were found with the following frequencies: 57, 29, and 14%%, respectively (p = 0.001; Fig. 5b).
Similar to the mutation spectrum observed in BRCA1 and BRCA2, protein truncating mutations in PALB2 are distributed throughout the coding region but in contrast to its binding partners, there is no evidence that missense mutations in PALB2 play a significant role of breast cancer predisposition.
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These observations support the general conclusion that Ts/Tv ratios differ between mutation spectra observed in MA lines and natural SNP patterns in C. elegans and C. briggsae.
Small variations in the mutation spectra observed in both studies may be caused by limited sample size and may also reflect differences in the groups of patients selected for genetic testing.
Notably, EMu discerned a signature almost identical to the mutation spectra observed in UTUCs strongly mutagenized by AA, as can be seen by comparing the EMu AA signature in Figure 3A with the spectra in Figure 1B (cosine similarities for A T > T A mutations >0.987).
The mutation spectra observed in rat and human liver tumors (ASL and/or hepatocellular carcinoma) that are associated with exposure to VC are clearly distinct from those observed in sporadic liver tumors or hepatic tumors that are associated with other exposures.
It should also be stressed here that it is very likely that the mutation spectra observed in our short-term evolution experiments were considerably less influenced by selection than those encountered in either longer-term evolution experiments, or viruses sampled from nature.
The mutational spectrum observed involved mutations that had previously been detected in patients receiving IM (e.g. Q252H, G250E, E316K, T315I), with the exception of the rather predominant A424T mutation (Figure S2).
The mutational spectra observed with B[ a]P-7,8-dione and anti-B[ a]PDE showed point mutations that were randomly distributed throughout the p53 cDNA.
In this regard, analysis of the mutational spectra observed in NS vs JMML patients clearly indicates that germline PTPN11 NS-associated mutations have only a mild effect on development and hematopoiesis when compared with JMML-associated somatic PTPN11 lesions.
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CEO of Professional Science Editing for Scientists @ prosciediting.com