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These categories of mutation data are summarized in Table 1.
In this method of site-stripping we apply the phylogenetic tree (estimated ab initio in this software) and the MSA to classify all sites in the alignment into one of eight categories of mutation rate.
Subgroup analyses will be performed based on presence or absence of mutations at particular loci (eg, FBN-1 mutations) and, where possible, based on the predicted functional consequence of particular categories of mutation (eg, nonsense vs missense FBN-1 mutations) among those subjects with identified mutations.
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Curiously, the first three categories of mutations affect residues that, according to the crystal structure of the complex (Kang et al., 2015; Zhou et al., 2017), are not directly involved in receptor binding.
If the alignment method is not able to sensitively align, then some categories of mutations will be completely missed.
It is important to distinguish between near-cognate and non-cognate mRNA:tRNA interactions, because such a definition may be important for informing therapeutic strategies for suppressing these two different categories of mutations underlying many human diseases.
16 A rare autosomal dominant form of HH results from two categories of mutations in the gene for the iron transporter protein, ferroportin.
The ASSA server is capable of analyzing these categories of mutations; however it is considerably slower than the Shannon pipeline (30 s per variant).
Even a comparison of synonymous and nonsynonymous mutations suggested that the fitness effects of both categories of mutations followed Γ distributions, although the mean effect size of the synonymous mutations was less than that of the nonsynonymous ones.
Although a large variance is observed among loci due to the small size of our samples, this analysis shows that the genetic differentiation was low overall and did not differ between the two categories of mutations.
These results show that the skew score provides a good statistical cutoff at the default significance level (p = 0.001) for predicting the new sequence junctions created by all three categories of mutations.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com