Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Broad Institute · Massachusetts Institute of Technology · +6 more institutions
Abstract
Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing. Using whole-exome sequencing, we validate the concordance of clonal somatic mutations (88%), copy number…
Citation impact
- FWCI
- 21.60
- Percentile
- 100%
- References
- 65
Authors
57- VAViktor A. AdalsteinssonCorresponding
Broad Institute, Massachusetts Institute of Technology
- GHGavin Ha
Broad Institute, Harvard University, Dana-Farber Cancer Institute
- SSSamuel S. Freeman
Broad Institute, Harvard University
- ADAtish D. Choudhury
Dana-Farber Cancer Institute
- DGDaniel G. Stover
Harvard University, Dana-Farber Cancer Institute
Topics & keywords
- Concordance
- Exome sequencing
- Cell-free fetal DNA
- Exome
- Whole genome sequencing
- DNA sequencing
- Medicine
- Computational biology
- Good health and well-being