Sema4 Signal® WES/WTS Validation Summary


Validation Summary


The Sema4 whole exome sequencing (WES) assay is designed to sequence the entire exome or coding region of the human genome represented by about 18,500 genes, in one single test.

To accommodate various solid and heme malignancies, and the tumor/normal workflow, the test was validated for various specimen types including formalin fixed paraffin embedded (FFPE) tumor tissue samples, fresh frozen samples, bone marrow, whole blood, saliva and buccal swabs.

The DNA and RNA from the tumor are compared against paired normal such as normal FFPE tissue, blood, saliva or buccal swab samples to confirm the accuracy of the variant calls and provide the gold standard assessment of tumor mutation burden (TMB).

      • This assay detects both somatic and germline single nucleotide variants (SNVs), copy number alterations (CNVs), fusions and insertions and deletions (INDELs).
      • This test identifies clinically actionable oncological variants, along with ascertaining the microsatellite instability (MSI) and tumor mutational TMB status to help guide immunotherapy decisions.
      • The assay detection limit is a variant allele fraction (VAF) of 5% for SNVs and InDels.
      • The specificity and sensitivity for the SNVs and indels are >99%, with a specificity of 99% for the CNVs and fusions, and a sensitivity of 93% for CNVs and 99% for fusions.


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