Altogether, this shows that per site d N/d S estimated using ML provides statistically significant d N/d S > 1 values when the entire evolution is under mutation-selection balance.
The standard curve shows the functional relation between ENc and GC3s was under mutation pressure rather than selection.
In BRCA2, there is some evidence that a single common variant is under-represented in deleterious mutation carriers so the most common BRCA2 haplotype occurs more frequently in this group.
That is, under lower mutation rates an individual based solution is evolved in almost all cases (blue and green) and under increased mutation rates it becomes increasingly difficult to reach an individual based solution.
To boost weak signals such as rare somatic mutations that may be under-sampled or represent a mutation occurring in a small proportion of cells in the tumour, and to decrease the influence of germline polymorphism, another nine features are introduced.
Within the same family category, the number of BRCA2 mutations was under-predicted (8.27 expected versus 12 observed).
UV-type mutations were under-represented, consistent with a lesser role for UVB on sites receiving either no, or only intermittent, sun exposure.
The non-coding sequence (non-CDS) is under replication-related mutation pressure, and free from selection at the translation level.
Sign epistasis (SE) refers to cases in which the sign of the fitness effect of a mutation is under epistatic control; thus, such a mutation is beneficial in some genetic backgrounds and deleterious in others [ 54].
Initially, the population evolved in the absence of gene conversion, that is, only under mutation, selection, and genetic drift, for a period of Teq generations, where an equilibrium regime was reached (Teq was set to N, which is sufficient to reach an equilibrium, data not shown).
