Comparison of genetic variants in matched samples using thesaurus annotation.

ABSTRACT:

Motivation

Calling changes in DNA, e.g. as a result of somatic events in cancer, requires analysis of multiple matched sequenced samples. Events in low-mappability regions of the human genome are difficult to encode in variant call files and have been under-reported as a result. However, they can be described accurately through thesaurus annotation-a technique that links multiple genomic loci together to explicate a single variant.

Results

We here describe software and benchmarks for using thesaurus annotation to detect point changes in DNA from matched samples. In benchmarks on matched normal/tumor samples we show that the technique can recover between five and ten percent more true events than conventional approaches, while strictly limiting false discovery and being fully

SUBMITTER: Konopka T 

PROVIDER: S-EPMC4795618 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature