BASELINe defines selection strength as the log-odds ratio between the expected and observed frequencies of non-synonymous mutations, and estimates a full probability density for the strength using a Bayesian statistical framework.
Since there is some uncertainty about the details of the microsatellite mutation process, we consider several plausible mutation schemes, and estimate the variance in mutation size simultaneously with the demographic parameters of interest.
In Fabry disease, most mutations are private mutations and an estimate of the rate of responsive mutations is difficult to obtain.
In a recent study, we used a mutation accumulation (MA) line approach to evaluate the pattern of mutations and to estimate the mutation rates of the mitochondrial genome of P. pacificus (Molnar et al. 2011).
The BCLC has been extremely successful in collating linkage and clinical data from families with inherited breast cancer, enabling it to establish cancer risks, genetic heterogeneity estimates and prevalence estimates for BRCA1 and BRCA2 mutations, and other estimates.
Epidemiology studies have been of two types: (1) estimating the risk of prostate cancer in men from families with BRCA2 mutations, and (2) estimating the proportion of BRCA2 mutations among unselected men with prostate cancer.
The experimental approach accumulates mutations and directly estimates effects on an observable fitness correlate [ 51, 68, 237- 241].
45, 46 The CHEK2 1100delC mutation has also been shown to confer approximately a tenfold increase in breast cancer risk in men lacking BRCA1/2 mutations, and was estimated to account for 9% of familial high-risk male breast cancer cases.
Logistic regression models were used to detect associations of these characteristics with each of the specific KRAS mutations and provided estimates of odds ratio (ORs) and confidence intervals (CIs).
STATA Version 8.2 (Stata Corp., College Station, TX) was used to analyze estimates of the effect of prophylaxis on mutation occurrence and estimates of the effect of mutation on treatment outcome.
