Conpair: concordance and contamination estimator for matched tumor-normal pairs.

ABSTRACT:

Motivation

Sequencing of matched tumor and normal samples is the standard study design for reliable detection of somatic alterations. However, even very low levels of cross-sample contamination significantly impact calling of somatic mutations, because contaminant germline variants can be incorrectly interpreted as somatic. There are currently no sequence-only based methods that reliably estimate contamination levels in tumor samples, which frequently display copy number changes. As a solution, we developed Conpair, a tool for detection of sample swaps and cross-individual contamination in whole-genome and whole-exome tumor-normal sequencing experiments.

Results

On a ladder of in silico contaminated samples, we demonstrated that Conpair reliably measures contamination levels as low as 0.1%, even in presence of copy number changes. We also estimated contamination levels in glioblastoma WGS and WXS tumor-normal datasets from TCGA and showed that they strongly correlate with tumor-normal concordance, as well as with the number of germline variants called as somatic by several widely-used somatic callers.

Availability and implementation

The method is available at: https://github.com/nygenome/conpair CONTACT: [e-mail] or [e-mail] information: Supplementary data are available at Bioinformatics online.

SUBMITTER: Bergmann EA 

PROVIDER: S-EPMC5048070 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature