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Recently, Talavera et al. [34] investigated the pattern of cancer-related mutations and compared them with those from polymorphic variants.
The location of disease-associated mutations relative to functional domains in the PLA2G6 protein is illustrated in Figure 2. We produced recombinant proteins containing each of the disease-associated mutations and compared catalytic activity to the WT PLA2G6 protein.
Mutascope was used to call somatic mutations, and compared to the whole exome sequencing data [ 19].
Next, we extracted mutation subtypes from the LoF and GoF mutations and compared their distributions.
Tumour specimens available for 19 of the patients were additionally assayed for ras mutations and compared with blood specimens.
Sequences were screened for mutations and compared with corresponding human reference KIT exon sequence at NCBI, using Sequence Analysis software v5.3.1 and SeqScape® software v2.6 (ABI).
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Potential predisposing genes could be identified by detecting germline mutations and comparing with CGC46 database with in-house software, which were presented in Supplementary Table 6.
We were able to examine the location and type of mutations and compare them to classifier results using the Miller et al. data.
In this section, we will explore the potential for FATHMM-MKL to correctly predict novel functional mutations and compare its behaviour with that of CADD and GWAVA across the entire human genome.
They tested the women for the NQO1*2 mutation and compared their survival rates over an average of nearly 6 years of follow-up visits.
In this study, we examined survival for men with prostate cancer and a BRCA2 mutation, and compared this to a similar group of men with a BRCA1 mutation.
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