At each release, we test our pipeline using NA12878 sequencing reads obtained from Illumina and other sources (now also precision FDA). Then, we compare the list of identified variants with a minimum coverage of 20x to the “Golden List” of variants (GIAB) from the Genome in a Bottle Consortium data set.
Our scores in the FDA precision medicine challenge:
FDA's Precision Contest
Note that Saphetor Portal was renamed VarSome Clinical in January 2019.