Article
Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer.
Nature genetics - 1 Aug 2023
Bruhm Daniel C, Mathios Dimitrios, Foda Zachariah H, Annapragada Akshaya V, Medina Jamie E, Adleff Vilmos, Chiao Elaine Jiayuee, Ferreira Leonardo, Cristiano Stephen, White James R, Mazzilli Sarah A, Billatos Ehab, Spira Avrum, Zaidi Ali H, Mueller Jeffrey, Kim Amy K, Anagnostou Valsamo, Phallen Jillian, Scharpf Robert B, Velculescu Victor E
Abstract excerpt
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were...
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