Comparison of Strategies A and B for Fine Mapping the Founder Mutation Location in 100 Simulated Data Sets With a Hypothethical Mendelian Disorder
LD mapping algorithm | Strategya | Mean(pos)b | Std(pos)c | Mean 95% PI width | RMSEd | Overlape |
|---|---|---|---|---|---|---|
| BLADE | A | 1.9042 | 0.0950 | 0.2194 | 0.0947 | 97% |
| B | 1.9064 | 0.1367 | 0.1721 | 0.1361 | 93% | |
| DHSMap | A | 1.9094 | 0.0881 | 0.1059 | 0.0882 | 86% |
| B | 1.9097 | 0.1292 | 0.0842 | 0.1289 | 70% |
a The average of the 100 location estimates in the 100 simulations (true location = 0.88 cM).
b The sample standard deviation of the 100 location estimates.
c The average width of the 95% probability intervals (PIs) in the 100 simulations.
d Root mean square error (RMSE): square root of the average squared differences between the estimated and the true location, i.e., RMSE = [TeX:] \batchmode \documentclass[fleqn,10pt,legalpaper]{article} \usepackage{amssymb} \usepackage{amsfonts} \usepackage{amsmath} \pagestyle{empty} \begin{document} \(\sqrt{(1{/}100){{\sum}_{i=1}^{100}}({\hat{{\theta}}}_{i}-{\theta})^{2}}\) \end{document} , where θ is the ture location and [TeX:] \batchmode \documentclass[fleqn,10pt,legalpaper]{article} \usepackage{amssymb} \usepackage{amsfonts} \usepackage{amsmath} \pagestyle{empty} \begin{document} \({\hat{{\theta}}}_{i}\) \end{document} is the location estimate based on the ith simulated data set.
e The percentage of times (in the 100 simulations) that the 95% PI overlapped with the target region.