CancerLocator: non-invasive cancer diagnosis and tissue-of-origin prediction using methylation profiles of cell-free DNA.


We propose a probabilistic method, CancerLocator, which exploits the diagnostic potential of cell-free DNA by determining not only the presence but also the location of tumors. CancerLocator simultaneously infers the proportions and the tissue-of-origin of tumor-derived cell-free DNA in a blood sample using genome-wide DNA methylation data. CancerLocator outperforms two established multi-class classification methods on simulations and real data, even with the low proportion of tumor-derived DNA in the cell-free DNA scenarios. CancerLocator also achieves promising results on patient plasma samples with low DNA methylation sequencing coverage.

  • Alber F
  • Chen Q
  • Dubinett SM
  • Grimes B
  • Kang S
  • Krysan K
  • Lee G
  • Li Q
  • Li W
  • Park S
  • Sun F
  • Wang W
  • Yu M
  • Zhou XJ
  • Zhou Y
PubMed ID
Appears In
Genome Biol, 2017, 18 (1)