Depth Score threshold optimization assay.

The filtering results for various DS scores in a sample family (Family 990) are shown below. We observed that the threshold used for the control pool did not affect the total number of variants identified when using a DS threshold of 50 or higher for the cases. Taking into account the false positive rates (FPR) and false negative rates (FNR), and in order to be as conservative as possible, we finally chose a DS threshold of 50 for cases and a DS threshold of 14 for the control pool data.