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The consequences of a mutation in the SHH gene in humans are very serious indeed.
Because of information gained from the Human Genome Project, which first sequenced the entire human genome in 2000, the location of SNPs can point scientists to which particular genes might be affected and what the functional consequences of a mutation might be.
However, no existing method incorporates pathway-level information into the assessment of the consequences of a mutation.
Underlying these relationships are the epistatic interactions that occur when the consequences of a mutation to a protein are determined by the genetic background in which it occurs.
Lastly, genetic studies are conducted to examine the system-wide phenotypic consequences of a mutation to a protein node as well as changes in environmental selection pressures [ 41, 45– 51].
Finally, expression profiling and DamID analyses provide complementary information because the first approach tells the direct and indirect transcriptional consequences of a mutation, whereas the second tells where the transcription factor binds in the genome.
Similar(46)
When the state of p53 deficiency is a consequence of a mutation or interaction with viral oncoproteins, the cell does not sense p53, and again attempts to adapt by reducing p53 degradation.
Although it is often not possible to quantify the functional consequence of a mutation, TF genes offer a unique opportunity in this respect.
The consequence of a mutation in SFTPC depends on its position in the gene [ 22].
This biochemical consequence of a mutation in Per2 was regionally specific, as the deficit was not seen in SCN tissue.
The functional prediction is made based on the translational consequence of a mutation against a reference transcript set, for example, Gencode.
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