How are pipelines validated?

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.