Handbook of Targeted Cancer Therapy and Immunotherapy

Figure 9.1

89

Flowchart of genomic and transcriptomic assessment using NGS. DNA, deoxyribonucleic acid; Mb, megabase; NGS, next-generation sequencing; RNA, ribonucleic acid.

Tissue Input for NGS

Whole tumor sample Single tumor cell Plasma (liquid biopsy)

DNA Sequencing

RNA Sequencing

Targeted sequencing Small/large panel testing Whole-exome/genome sequencing

Gene Expression Signatures Splice variant expression

Somatic Alterations

Pathway under-/overexpression

Single-nucleotide variations Copy number alterations Insertions/deletions

Expression of Oncogenes/Tumor Suppressor Genes

Tumor Mutational Burden

Number of mutations/Mb

Expression of Deleterious Variants

Germline Variants

Gene Fusions

Novel/oncogenic fusions Fusion transcript expression

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