Assessing reliability of intra-tumor heterogeneity estimates from single sample whole exome sequencing data.

ABSTRACT: Tumors are made of evolving and heterogeneous populations of cells which arise from successive appearance and expansion of subclonal populations, following acquisition of mutations conferring them a selective advantage. Those subclonal populations can be sensitive or resistant to different treatments, and provide information about tumor aetiology and future evolution. Hence, it is important to be able to assess the level of heterogeneity of tumors with high reliability for clinical applications. In the past few years, a large number of methods have been proposed to estimate intra-tumor heterogeneity from whole exome sequencing (WES) data, but the accuracy and robustness of these methods on real data remains elusive. Here we systematically apply and compare 6 computational methods to estima

SUBMITTER: Abecassis J 

PROVIDER: S-EPMC6837753 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature