Additional file 7: Table S5. of Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

Results for all volunteer and Coriell samples. (XLSX 49 kb

Additional file 11: Figure S5. of Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

95 % Posterior (credible) intervals for π are plotted for each 1000 Genomes Project subject. Samples are colored and symbolized as in Fig. 5. (PDF 62 kb

Additional file 10: Figure S4. of Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

A plot of the scaled proportion of reads aligning to SMN1 versus their frequency for (a) the volunteer and Coriell subjects and (b) the 1000 Genomes subjects. In both datasets, most individuals have an estimate of π to the right of the line at 0.38; it is unlikely they are carriers. (PDF 114 kb