Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA.

ABSTRACT:

Motivation

Cancer is a complex disease that involves rapidly evolving cells, often forming multiple distinct clones. In order to effectively understand progression of a patient-specific tumor, one needs to comprehensively sample tumor DNA at multiple time points, ideally obtained through inexpensive and minimally invasive techniques. Current sequencing technologies make the 'liquid biopsy' possible, which involves sampling a patient's blood or urine and sequencing the circulating cell free DNA (cfDNA). A certain percentage of this DNA originates from the tumor, known as circulating tumor DNA (ctDNA). The ratio of ctDNA may be extremely low in the sample, and the ctDNA may originate from multiple tumors or clones. These factors present unique challenges for applying existing tools a

SUBMITTER: Gawronski AR 

PROVIDER: S-EPMC6468241 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature