1The specificity is estimated using the 47 female samples that are a subset of the 90 normal test set samples and is restricted to the 1955 X chromosome SNPs. The sensitivity is estimated on 1955 X chromosome SNPs using DNA samples with 1X, 3X, 4X and 5X chromosomes.
2Stage 1: Single point analysis: no probe selection, no intensity adjustment on fragment length and GC content; no intensity adjustment on reference mean.
3Stage 2: Stage 1 plus probe selection.
4Stage 3: Stage 2 plus intensity adjustment on the fragment length and GC content and intensity adjustment on the reference mean.
5Stage 4: Stage 3 plus kernel smoothing with a 100 kb window.
6Stage 5: Stage 4 plus genome partitioning using the regression tree.