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Average mutation percentage was estimated by densitometry.
The mutation percentage was very low at splice site donor and acceptors.
Sequences were aligned against wild-type, and average mutation percentage was calculated from three independent replicates.
For each mutation LOD, the associated mutation percentage was estimated by fitting a non-linear model between ∆Ct values and mutant percentage.
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When corrected for mutated single samples, the mutation percentage is 39%, still slightly higher than reported.
A comparison was also performed using one-point and two-points crossover operator and the results of a sensitivity study for different mutation percentage are also showed.
Numts typically have short sequences (<200 bp) and their mutation percentages are between 5 and 25% [ 40- 43].
For the PDB patients carrier of a heterozygous SQSTM1/P392L germinal mutation, this percentage was >97 %, suggesting that the mutant T allele and the wild-type C allele were present in a similar copy number, as expected.
By calculating the percentage of known true and false mutants, parameters resulting in the highest true mutation detection percentage and the lowest false mutation detection percentage were given priority; candidates detected from the above mentioned parameters were used for further validation.
In all, 26 out of the 47 cases (55.3%) harbored a single CEBPA mutation; this percentage is higher than that reported in previous studies of pediatric AML patients.
The overall incidence of CDKN2A mutations was 33.3%, but this percentage was higher in families with 3 or more melanoma cases (50%) than in those with only 2 affected relatives (25%).
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