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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001005497	TTN gene targeted sequencing for AMC cohort (n=24)	Illumina MiSeq	24

Publications	Citations
Spontaneous mutations in the single <i>TTN</i> gene represent high tumor mutation burden. Oh JH, Jang SJ, Kim J, Sohn I, Lee JY, Cho EJ, Chun SM, Sung CO. NPJ Genom Med 5: 2020 33	51