Table 2.
Assay | Total size/Coding (Mb) | Aberration in Algorithma | Germline Filtering | Cancer Gene Bias Correction | FFPE Error Correction | Targeting | Reference |
---|---|---|---|---|---|---|---|
MSK-IMPACT | 1.5/1.14 | SNV (NS), indels | Paired normal | No | Pool of normals | Hybrid capture | 15 |
FoundationOne CDx | 2.2/0.8 | SNV (NS, S), indels | Database, SGZ | Yes | Bioinformatic | Hybrid capture | 55 |
Illumina TSO500 | 1.9/1.3 | SNV (NS, S), indels | Database, SGZ | Yes | UMI | Hybrid capture | 59 |
Thermo Fisher Oncomine | 1.7/1.2 | SNV (NS) | Database | No | UDG; deamination metric | Amplicon | 56 |
Qiagen QIAseq TMB | 1.3/1.3 | SNV (NS), indels | Database | No | UMI | Amplicon | Personal communication, Raed Samara, Qiagen |
NEO New Oncology, NEOplus ROU | 2.5/1.2 | SNV (NS), indels | Database | NA | Bioinformatic | Hybrid capture | 76 |
Caris SureSelect XT | 1.6/1.4 | SNV (NS), indels | Database | No | Bioinformatic | Hybrid capture | 57 |
FFPE, formalin-fixed paraffin-embedded; indel, insertion-deletion; MSK-IMPACT, Memorial Sloan Kettering–Integrated Mutation Profiling of Actionable Cancer Targets; NA, not available; NS, nonsynonymous; S, synonymous; SGZ, somatic-germline zygosity algorithm; SNV, single nucleotide variants; TMB, tumor mutational burden; UDG, uracil-DNA glycosylase; UMI unique molecular identifier.
Aberrations included in the bioinformatic pipeline to estimate TMB. All assays report TMB according to the definition—that is, NS-TMB per Mb correlated to WGS.