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While examining patterns of somatic mutations can provide an indication of the aetiology of the operative mutational processes, it does not allow deciphering the individual mutational signatures that are operative in each sample as usually the pattern of a sequenced cancer genome does not resemble any of the operative mutational processes.
While the clonal mutations in MuLV-driven tumors match a similar power law distribution, selection of mutations identified at the subclonal level strongly correlate with clonal mutations and/or known cancer drivers, suggesting that these mutations can provide statistical support for the role of rarely recurrent clonal mutations.
A variety of sources, such as lateral gene transfer and chromosomal mutations, can provide the underlying genetic changes, and clinically resistant strains often contain multiple alterations.
Naturally occurring mutations can provide important insights into ion channel function.
Several studies have suggested that TERT promoter mutations can provide a biomarker to stratify human cancer subtypes (Heidenreich et al., 2014; Borah et al., 2015).
The detailed features of these networks and how they are impaired by oncogenic mutations can provide important clues for unexplored drug target sites on Ras [ 2].
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Even if not every mutation leads to a new evolutionary pathway, the flies are a vivid example of one way mutation can provide variation for natural selection to work on.
Further mapping in this mutant can provide more insights regarding the causal mutation for the mutant phenotype.
Targeted application of next-generation sequencing (NGS) technology allows detection of specific mutations that can provide treatment opportunities for cancer patients.
MPS allows the simultaneous detection of genomic events at multiple loci in a high-throughput manner and not only can identify point mutations but can provide accurate copy number and, in the case of whole-genome sequencing, chromosomal translocation information as well.
Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics.
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