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The results show a heterogeneous population of mutations that are found together in one strain.
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However, for this to work, prospective, long-term iPSC phenotype/clinical phenotype correlation studies would have to be done in a large population of mutation carriers to establish the natural history and prognosis of sarcomeric cardiomyopathies.
Haplotype fitnesses, timings and marker populations of mutations, and the initial haplotype frequencies at the beginning of the experiment, were then inferred for each simulation using the model previously described.
Population frequencies of mutations with high-penetrance toward risk are rare due to their severe effects on individuals and, thus, these mutations account for only a small percentage of population risk.
"Genetic load" refers to the increase in frequency or fixation in the population of disadvantageous mutations that are linked to advantageous mutations.
Puzzling over why organisms bother, some scientists have claimed that sex helps rid a population of harmful mutations.
Therefore, our findings may not apply to a more general population of BRCA1/2 mutation carriers nor other women at high risk of breast cancer.
We estimated the risk of breast cancer for individuals with the T1a1 haplogroup compared with individuals with another T subclade haplogroup in the population of BRCA2 mutation carriers using a more classical statistical method, a weighted Cox regression.
This basic framework leads to the second set of predictions related to population genetics of mutation-selection balance (Nunney 2003).
The next chapter deals with natural selection in relation to populations, the role of population size in fixation of mutations, and population cycles as well as phenotypic plasticity.
The cost of screening the population for mutations in the entire BRCA1 gene is unacceptably high.
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