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In addition, these tumors often simultaneously show mutation signatures due to exposure to endogenous activated DNA cytidine deaminases (APOBECs; Figure 4a), signatures of mutations that accumulate with age, and other signatures of unknown origin [ 8].
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These studies demonstrated the value of whole genome sequencing for evaluating signatures of mutational processes by providing greater resolution and mechanistic insight into mutational signatures due to known carcinogens, for example through the identification of a lower prevalence of mutations over the footprints of genes.
Balancing selection is a process that maintains genetic variability in human populations and its signatures, due to recombination and mutation, are expected to extend over relatively short genomic regions (reviewed in [ 9]).
Notably, as described earlier, of the 21 mutation signatures identified in [ 8], 10 lacked any known underlying mutational process or exposure, and over two-thirds of cancer types were affected by signatures due to unknown causes.
The yielding Doppler signatures are depicted in Figure 5. Figure 5 Three distinct Doppler signatures due to micro-multipath propagation.
Of course, not all cancer is due to mutagenic exposures, but linking somatic mutation catalogs generated by next-generation sequencing to specific exposures via the mutation signatures of these exposures could substantially reduce the burden of avoidable cancer.
EMu distinguished three mutation signatures in these tumors.
Outlier samples may also lead to differences in mutation signatures.
We pooled accumulated mutations for a given parental genotype to assess allele-associated mutation signatures.
The 23,000 SCLC mutations could be classified into distinct mutation signatures.
After excluding this outlier sample, four major mutation signatures were identified for SQCC, indicating that the UVB-signature we observed is not a prevalent signature in SQCC.
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