Study

Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring

Study ID Alternative Stable ID Type
EGAS00001004406 Other

Study Description

In many areas of oncology, we lack sensitive tools to track low burden disease. While cell-free DNA (cfDNA) shows promise in detecting cancer mutations, we found that the combination of low tumor fraction (TF) and limited number of DNA fragments restricts low disease burden monitoring through the prevailing deep targeted sequencing paradigm. We reasoned that breadth may supplant depth of sequencing to overcome the barrier of cfDNA abundance. Whole genome sequencing (WGS) of cfDNA allowed ultra-sensitive detection, capitalizing on the cumulative signal of thousands of somatic mutations observed in solid malignancies, with TF detection sensitivity as low as 10-5. The WGS approach enabled dynamic tumor burden tracking and post-operative residual disease detection, associated with adverse outcome. Thus, we present an orthogonal framework for cfDNA cancer monitoring via genome wide mutational integration, enabling ultra-sensitive detection, overcoming the limitation of cfDNA abundance, and empowering treatment optimization in low-disease burden oncology care

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006237
Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring
HiSeq X Ten 167

Who archives the data?

There are no publications available