Nature Communications (Nov 2017)

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

  • Viktor A. Adalsteinsson,
  • Gavin Ha,
  • Samuel S. Freeman,
  • Atish D. Choudhury,
  • Daniel G. Stover,
  • Heather A. Parsons,
  • Gregory Gydush,
  • Sarah C. Reed,
  • Denisse Rotem,
  • Justin Rhoades,
  • Denis Loginov,
  • Dimitri Livitz,
  • Daniel Rosebrock,
  • Ignaty Leshchiner,
  • Jaegil Kim,
  • Chip Stewart,
  • Mara Rosenberg,
  • Joshua M. Francis,
  • Cheng-Zhong Zhang,
  • Ofir Cohen,
  • Coyin Oh,
  • Huiming Ding,
  • Paz Polak,
  • Max Lloyd,
  • Sairah Mahmud,
  • Karla Helvie,
  • Margaret S. Merrill,
  • Rebecca A. Santiago,
  • Edward P. O’Connor,
  • Seong H. Jeong,
  • Rachel Leeson,
  • Rachel M. Barry,
  • Joseph F. Kramkowski,
  • Zhenwei Zhang,
  • Laura Polacek,
  • Jens G. Lohr,
  • Molly Schleicher,
  • Emily Lipscomb,
  • Andrea Saltzman,
  • Nelly M. Oliver,
  • Lori Marini,
  • Adrienne G. Waks,
  • Lauren C. Harshman,
  • Sara M. Tolaney,
  • Eliezer M. Van Allen,
  • Eric P. Winer,
  • Nancy U. Lin,
  • Mari Nakabayashi,
  • Mary-Ellen Taplin,
  • Cory M. Johannessen,
  • Levi A. Garraway,
  • Todd R. Golub,
  • Jesse S. Boehm,
  • Nikhil Wagle,
  • Gad Getz,
  • J. Christopher Love,
  • Matthew Meyerson

DOI
https://doi.org/10.1038/s41467-017-00965-y
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 13

Abstract

Read online

Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole-exome sequencing is concordant with metastatic tumour whole-exome sequencing.