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There was a significantly lower mutation load detected by the RMC and single molecule PCR assays, than post-PCR cloning.
In general, the corresponding clones in HCT116+chr3 displayed significantly lower mutation rates than in HCT116 cells.
Significantly lower mutation prevalence, on both transcribed and non-transcribed DNA strands, was observed in more highly expressed genes for G-to-T and also for other types of mutations, suggesting that, in addition to the strand-specific repair pathway, a repair pathway exists that preferentially removes lesions from both strands of active genes [ 11].
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We found that the primary tumours of patients who developed liver metastases are characterised not only by significantly higher amplifications of chromosome 20q (P=0.003), but also by significantly lower mutations in the PI(3)K signalling pathway (P=0.003) and hardly ever CIMP-high (P=0.05).
However, compared with sporadic BCCs, BCNS-BCCs have a significantly lower mutational load, lower proportion of ultraviolet mutagenesis, increased genomic stability, and harbor fewer functionally resistant Smoothened mutations at baseline, explaining why BCNS-BCCs lack intrinsic resistance to Smoothened-inhibitors.
We also found a significantly higher proportion of GC-ending codons at paired sites in rhodopsin mRNA secondary structure, and significantly lower synonymous mutation rates in putative exonic splicing enhancer (ESE) regions than in non-ESE regions.
The risk of this occurring was significantly lower with mutations within the dynamin gene domain (OR = 0.28, 95% CI = 0.10 0.84. P = 0.0159) (Table 2).
Patients with TP53 mutations had significantly lower incidences of NPM1 mutation, FLT3/ITD and DNMT3A mutations than those with TP53 wild-type.
Patients with TP53 mutations had significantly lower incidences of NPM1 mutation, FLT3/ITD and DNMT3A mutations than those with TP53 wild-type (2.9% vs 21.9%, P=0.0041; 0% vs 24.3%, P=0.0002; and 2.9% vs 14.8% P=0.045, respectively).
Lower VL and higher CD4+ counts, however, were significantly associated with lower mutation rates in CRF01_AE (Table 2).
Compared to non-carriers, MD was significantly lower among BRCA2 mutation carriers (odds ratio (OR) =0.71; P-value=0.04), but not among BRCA1 carriers (OR=0.84; P-value=0.33).
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