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 =
, where θ is the ture location and
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.











