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In addition to the CSF3R p.Thr618Ile mutation, we validated mutations in U2AF1, TET2, LUC7L2 and ASXL1.
As HRMA is a screening method that requires further analysis to identify the type of mutation, we validated the results by PCR product cloning; 30 clones were purified and sequenced.
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For these reasons, once having defined an HRM method which may be able to detect patients known to present JAK2 exon 12 mutations, we validated the method as reproducible and transferable on three different instruments using different DNA binding dyes.
To develop methods for optimal somatic mutation detection and to identify factors influencing somatic mutation prediction accuracy, we validated predictions from three somatic mutation detection algorithms, MuTect, JointSNVMix2 and SomaticSniper, by Sanger sequencing.
By comparing 21 mutation and gene positions of cloned mutations we have validated the correctness of our linkage group assignments and estimated the standard error of our map positions to be approximately 6 cM.
While Veridical does indeed validate the splicing consequence observed, when we say that it validates the mutation we do only mean that it strongly corroborates the mutation as a causative agent of the splicing consequence.
We validated the mutation and confirmed the de novo status using classical Sanger sequencing.
We validated these mutations as somatic by mass spectrometric genotyping of the tumour and matched normal DNA, after an independent PCR amplification.
We validated the unique mutation dynamics of minimal introns in keeping their near-optimal size and GC content, and our observations suggest potentially important functions of human minimal introns in transcript processing and gene regulation.
We validated the somatic mutation calls by deep-targeted sequencing (~850 × coverage) using the Illumina TruSeq Custom Amplicon (TSCA) kit (San Diego, CA, USA) modified to account for PCR duplicates.
Furthermore, we validated seven nonsynonymous mutations in testis-specific or oviduct-specific genes, which underline the potential of these variants as candidates for selection in reproduction traits.
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