Nature Communications (May 2021)

Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden

  • Peter Peneder,
  • Adrian M. Stütz,
  • Didier Surdez,
  • Manuela Krumbholz,
  • Sabine Semper,
  • Mathieu Chicard,
  • Nathan C. Sheffield,
  • Gaelle Pierron,
  • Eve Lapouble,
  • Marcus Tötzl,
  • Bekir Ergüner,
  • Daniele Barreca,
  • André F. Rendeiro,
  • Abbas Agaimy,
  • Heidrun Boztug,
  • Gernot Engstler,
  • Michael Dworzak,
  • Marie Bernkopf,
  • Sabine Taschner-Mandl,
  • Inge M. Ambros,
  • Ola Myklebost,
  • Perrine Marec-Bérard,
  • Susan Ann Burchill,
  • Bernadette Brennan,
  • Sandra J. Strauss,
  • Jeremy Whelan,
  • Gudrun Schleiermacher,
  • Christiane Schaefer,
  • Uta Dirksen,
  • Caroline Hutter,
  • Kjetil Boye,
  • Peter F. Ambros,
  • Olivier Delattre,
  • Markus Metzler,
  • Christoph Bock,
  • Eleni M. Tomazou

DOI
https://doi.org/10.1038/s41467-021-23445-w
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 16

Abstract

Read online

Liquid biopsies enable minimally invasive applications for diagnosis and treatment monitoring. Here the authors analyse fragmentation patterns of circulating tumour DNA on multiple levels and develop a bioinformatic tool, LIQUORICE, to accurately detect and classify paediatric cancers with low mutational burden.