The SOPHiA DDM™ Platform normalizes the scores provided by the different tools to enable comparisons among the different sources. For all predictive scores, a value of 1 means likely pathogenic and 0 likely benign irrespective of the database. The scores are transformed following the rationale and procedure established by dbNSFP and discussed in  Xiaoming Liu et al., 2011 ( Briefly:


“1 – SIFT” score (the original SIFT score is opposite, with 0 being predicted pathogenic and 1 benign)


No transformation (there are two different PolyPhen2 scores, HVAR and HDIV, based on different training sets)


Combination of prediction and score (1 – confident, 0 not confident). The SOPHiA DDM™ Platform displays the score if the prediction is pathogenic or “1 – score” if the prediction is benign

Tag: Tertiary Analyses