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. 2022 Dec 8;6:e2200245. doi: 10.1200/PO.22.00245

FIG 1.

FIG 1.

Methods currently used for a precise diagnosis of patients with cancer and tumor characterization. aMethod/design-specific limitations may exist in sensitivity and/or event type or size. bOnly when a normal control is included in the test, which is not routine practice. cAlthough the approach is genome-wide, the analysis is usually done in targeted way because of the complexity of analysis. CMA, chromosomal microarray; CNAs, copy number aberrations; Diff. Expr., differential expressions; FISH, fluorescence in situ hybridization; GEX, gene expression; HLA, human leukocyte antigen; HRD, homologous recombination deficiency; HRR, homologous recombination repair; MSI, microsatellite instability; PGX, pharmacogenomics; SNVs, single-nucleotide variants; TMB, tumor mutational burden; TME, tumor mutational environment; WES, whole-exome sequencing; WGS, whole-genome sequencing; WGTS, whole-genome and transcriptome sequencing; WTS, whole-transcriptome sequencing.