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

Study ID Alternative Stable ID Type
EGAS00001004009 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
TTN gene targeted sequencing for AMC cohort (n=24)
Illumina MiSeq 24

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