Influence of low tumor content on tumor mutational burden estimation by whole-exome sequencing and targeted panel sequencing.

Wenxin ZhangRuixia WangHuan FangXiangyuan MaDan LiTao LiuZhenxi ChenKe WangShiguang HaoZicheng YuZhili ChangChenglong NaYin WangJian BaiYanyan ZhangFang ChenMiao LiChao ChenLiangshen WeiJinghua LiXiaoyan ChangShoufang QuLing YangJie Huang

Published in: Clinical and translational medicine (2022)

We developed a linear model to establish the quantitative correlation between wesTMB and psTMB. A set of DNA reference standards was produced in aid to standardize TMB measurements in samples with low tumor content across different targeted sequencing panels. This study is a significant contribution aiming to harmonize TMB estimation and extend its future application in clinical samples with low tumor content including liquid biopsy.

Keyphrases

single cell
cancer therapy
drug delivery
high resolution
circulating tumor
single molecule
circulating tumor cells