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In silico proficiency testing, which evaluates only the bioinformatics component of NGS assays, is a recently introduced PT method that allows for evaluation of numerous mutations spanning a range of variant classes.
In addition, it can be used to make short insertions and multiple mutations spanning a wide region (up to 120 bp) in a cDNA.
Finally, since this cloning method is also sequence independent, we demonstrated that it can be used for chimera construction, insertion, and multiple mutations spanning a stretch of DNA up to 120 bp.
Figure 6 is an example of 8 amino acid substitutions (8 arginines to 8 glutamines) with multiple nucleotide mutations spanning a 13-codon region in the cDNA encoding human nAChR β2 subunit.
With this relatively short primer pair (45-base forward primer and 46-base reverse primer), we have successfully obtained this multiple mutations spanning a 13-codon stretch in the cDNA.
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Accordingly, the role of the loop in fusion was investigated through the construction, expression and fusion activity of a set of mutations spanning the charged sequence in a background of the complete gp64 open reading frame (Table 1).
However, despite ever greater numbers of sequenced genomes, most genome-wide association studies cannot distinguish causal variants from linked passenger mutations spanning many genes.
Here, we present the broadest validation of a rigorous free energy-based approach applied to protein stability reported to date: 700 + single-point mutations spanning 10 different protein targets.
To address this, we generated panels of human induced pluripotent stem cells (hiPSCs) and hiPSC-derived oligodendrocytes from 12 individuals with mutations spanning the genetic and clinical diversity of PMD including point mutations and duplication, triplication, and deletion of PLP1 and developed an in vitro platform for molecular and cellular characterization of all 12 mutations simultaneously.
In this current work, we carried out detailed in silico analysis to study the extent of pathogenicity of mutations spanning the Parkin RING2 domain and the adjoining REP region by SIFT, Mutation Accessor, PolyPhen2, SNPs and GO, GV/GD and I-mutant.
These chronocoordinate mutations sometimes reflect "mutation showers", which are multiple chronocoordinate mutations spanning many kilobases.
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