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Moreover, a full fetal genome sequence would turn up numerous mutations for which information is lacking as to whether they cause disease, posing a dilemma for expectant parents and their doctors.
For the 80 mutations for which expression analyses have been performed in eukaryote systems, in most cases we found substantial overall correlations between the mutational energetic impact and both in vitro residual activities and patient metabolic phenotype.
A summary of the three methods, including their analytical selectivities and the types of mutations for which they are most useful, is shown in Table S5.
In some of the newly defined Native American branches, one can identify mutations for which a pathogenic role was suggested in the medical literature.
This is especially interesting in the clinical context of viruses that carry drug resistance mutations, for which the virus pays a fitness cost [53].
Although fully penetrant recessive mutations for which p = 0.75 are the most commonly sought mutations [15], other screening modes are frequently used for which p≠0.75.
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Throughout the fall, the only two patients on the trial whose tumors continued to grow were the ones who did not have the particular gene mutation for which the drug had been designed.
An example would be melanoma tumors containing a BRAF V600E mutation for which commercial assays and targeted agents are currently available.
The insertion, first reported in a patient with dystonia, leads to a frameshift mutation for which a pathogenic role was proposed [32].
Based on extensive pedigree data representing thousands of bulls used in AI and millions of calvings, the extremely high incidence of the dead calf phenotype among the offspring of YN51 indicated that this bull possessed a unique mutation for which only a few modes of inheritance were possible.
One striking example is that of the 'unlikely disruptive' 249A>G (mutation) mutation, for which all four Cis are well over the average value obtained for the 'expectedly disruptive' category.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com