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Spontaneous mutations in the single TTN gene represent high tumor mutation burden

Tumor mutation burden (TMB) is an emerging biomarker, whose calculation requires targeted sequencing of many genes. We investigated if the measurement of mutation counts within a single gene is representative of TMB. Whole exome sequencing (WES) data from the pan-cancer cohort (n=10,224) of TCGA, and targeted sequencing (tNGS) and TTN gene sequencing from 24 colorectal cancer samples (AMC cohort) were analyzed.

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Dataset ID Description Technology Samples
EGAD00001005497 Illumina MiSeq 24
Publications Citations
Spontaneous mutations in the single <i>TTN</i> gene represent high tumor mutation burden.
NPJ Genom Med 5: 2020 33
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