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While the deep mutational scanning is designed to sample all possible mutations, only a fraction of theoretically tolerable mutations have fixed in natural H1 HAs due to the finite timespan during which evolution has been exploring possible sequences (in other words, evolution is not at equilibrium; see Povolotskaya and Kondrashov, 2010).
Even with 9% mutations, only a very limited effect on the mapping accuracy was noted.
Among recurrent point mutations, only a single lesion mutation in SPOP was significantly associated with increased rearrangements.
Furthermore, increasing evidence suggests that even in tumors with EGFR mutations only a fraction of cells carry the mutant alleles that will be therefore diluted in a large background of wild type DNA [ 15].
In terms of more recently recognised genomic aberrations observed in breast cancer, even for the most common ones such as PIK3CA mutations, only a few studies have interrogated their prevalence in metastatic disease in comparison to what is observed in primary tumours (Dupont Jensen et al, 2010; Gonzalez-Angulo et al, 2011; Kalinsky et al, 2011; Fumagalli et al, 2013).
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Although RNA abundance was still reduced by the mdx mutation, only a mild compensatory effect (∼10 15%) was observed with these constructs (data not shown).
For the sample with an FMR1 full mutation, only a very faint amplicon band was observed from the region-specific CGG PCR (white arrow in Fig. 1a).
It is possible that only one mutation has a strong effect on fitness while the other mutations only have a negligible effect at the scale of the one generation used in these lab experiments.
Most pathogenic mutations only affect a proportion of the mitochondrial genomes and this is called heteroplasmy.
However, all PTP frameshift mutations only affected a single allele leaving the cMNR on the remaining allele intact.
With the retrospective approach, FLG mutations only had an effect on HE at inclusion in subjects with AD.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com