Tumor purity quantification by clonal DNA methylation signatures.

ABSTRACT:

Motivation

Controlling for tumor purity in molecular analyses is essential to allow for reliable genomic aberration calls, for inter-sample comparison and to monitor heterogeneity of cancer cell populations. In genome wide screening studies, the assessment of tumor purity is typically performed by means of computational methods that exploit somatic copy number aberrations.

Results

We present a strategy, called Purity Assessment from clonal MEthylation Sites (PAMES), which uses the methylation level of a few dozen, highly clonal, tumor type specific CpG sites to estimate the purity of tumor samples, without the need of a matched benign control. We trained and validated our method in more than 6000 samples from different datasets. Purity estimates by PAMES were highly concorda

SUBMITTER: Benelli M 

PROVIDER: S-EPMC5946863 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature