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Enigma Genomics

Tumor Mutational Burden by NGS - TMB

Tumor Mutational Burden by NGS - TMB

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Tumor Mutational Burden (TMB) gives us the total number of somatic mutations per megabase (Mb) of the coding region of a tumor genome. It serves as a biomarker for predicting response to immune checkpoint inhibitors, as tumors with high TMB may generate more neoantigens, enhancing immune recognition. TMB assessment in NGS involves analyzing single nucleotide variants (SNVs) and small insertions/deletions (indels) while excluding germline mutations and known artifacts. Accurate TMB calculation requires high-depth sequencing, robust bioinformatics pipelines, and standardized cutoffs for clinical interpretation.

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