Finally, there were two signatures for which the level of the contribution to mutations in tumors was strongly correlated with the patient's age.
Assuming the AA composition of triplet t is changed by the mutation, its contribution to the mutation score is ± w tQ t, where w t is the weight for the log-likelihood score Q t (Equation (1)).
The other codons have an individual contribution to TP53 mutation of less than 2% [ 28].
Genetic contributions to AD include mutations or alleles that increase risk such as ApoE4 [ 30- 33] and GWAS-identified genes [ 30, 34] or decrease risk such as the A673T coding variant in APP[ 35].
However, as the model did not explicitly include lineage selection and expansion, the question of the contribution of mutator mutations to tumorigenic efficiency in the presence of lineage selection and expansion remained open.
We found that the relative contribution of recombination to mutation is 1∶1.5.
The relative contribution of recombination to mutation in generating protein diversity was measured as a ratio of recombination to mutation per protein and per HVR.
Similarly, mutation-specific contributions to muscle weakness are observed in NEB-related nemaline myopathy, where altered thin filament lengths reduce muscle contractile performance [ 37, 38].
Genetic contributions to autism risks involve rare mutations, complex gene × gene interactions, and copy number variants (CNVs) including deletions and duplications (Stankiewicz and Lupski 2010).
If selection is strong, deleterious and beneficial mutations are expected to make little contribution to polymorphism; deleterious mutations are removed by selection and beneficial mutations reach fixation rapidly.
