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Most of these are passenger mutations that do not have a functional role in melanoma.
Our results demonstrate that DNA dynamic activity at the TSS can be suppressed by mutations that do not affect basal transcription factor binding DNA contacts.
If a positive reference set were to include many genes with no functional role in cancer, or with low penetrance (that is, mutations that do not always lead to cancer), this situation could clearly explain the low recall of these methods.
Mutations that do have an effect are usually deleterious, but occasionally some can be beneficial.
Most cases are sporadic, meaning they are caused by genetic mutations that do not seem to have been inherited.
This type of testing may capture mutations that do not yet have an approved therapy, but are being studied in clinical trial.
C12L, A44R and B7R all carry MVA-specific mutations that do not occur in any other sequenced strain of Vaccinia virus.
Indeed, several mutations that do not prevent the division of somatic cells result in male sterility, due to improper spermatid division.
While nonsense mutations that cause NMD result in 'loss of function', nonsense mutations that do not cause NMD produce truncated proteins which could have the dominant effects.
Coding region probability is calculated using a Hidden Markov Model (HMM) which considers mutations that do not change the final protein product.
Our studies showed that Gro/TLE1 anti-neurogenic function is disrupted by mutations that do not perturb interactions with DNA-binding partners but prevent cofactor-activated phosphorylation.
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CEO of Professional Science Editing for Scientists @ prosciediting.com