Fig. 3

Results for volunteer and Coriell samples. a. Estimate of the scaled proportion of SMN reads that are from SMN1 versus the carrier probability for each subject. The carrier probability can be interpreted as the probability that a point on the x-axis falls to the left of the vertical line at 0.38. Samples where few SMN reads align to SMN1 are likely SMA carriers, whereas those with a high proportion of SMN1 reads are unlikely SMA carriers. b. 95 % Posterior (credible) intervals for π are plotted for each subject. In both (a) and (b), subjects that did not meet our 10 % threshold across our three loci are labeled with stars. Note that their intervals in (b) are much wider due to their low coverage. Subjects in both plots are colored red if their credible interval is entirely below the 0.38 cutoff (vertical blue line) and orange if their interval overlaps with 0.38