Nature Communications (Jun 2021)

Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS

  • A. Rose Brannon,
  • Gowtham Jayakumaran,
  • Monica Diosdado,
  • Juber Patel,
  • Anna Razumova,
  • Yu Hu,
  • Fanli Meng,
  • Mohammad Haque,
  • Justyna Sadowska,
  • Brian J. Murphy,
  • Tessara Baldi,
  • Ian Johnson,
  • Ryan Ptashkin,
  • Maysun Hasan,
  • Preethi Srinivasan,
  • Anoop Balakrishnan Rema,
  • Ivelise Rijo,
  • Aaron Agarunov,
  • Helen Won,
  • Dilmi Perera,
  • David N. Brown,
  • Aliaksandra Samoila,
  • Xiaohong Jing,
  • Erika Gedvilaite,
  • Julie L. Yang,
  • Dennis P. Stephens,
  • Jenna-Marie Dix,
  • Nicole DeGroat,
  • Khedoudja Nafa,
  • Aijazuddin Syed,
  • Alan Li,
  • Emily S. Lebow,
  • Anita S. Bowman,
  • Donna C. Ferguson,
  • Ying Liu,
  • Douglas A. Mata,
  • Rohit Sharma,
  • Soo-Ryum Yang,
  • Tejus Bale,
  • Jamal K. Benhamida,
  • Jason C. Chang,
  • Snjezana Dogan,
  • Meera R. Hameed,
  • Jaclyn F. Hechtman,
  • Christine Moung,
  • Dara S. Ross,
  • Efsevia Vakiani,
  • Chad M. Vanderbilt,
  • JinJuan Yao,
  • Pedram Razavi,
  • Lillian M. Smyth,
  • Sarat Chandarlapaty,
  • Gopa Iyer,
  • Wassim Abida,
  • James J. Harding,
  • Benjamin Krantz,
  • Eileen O’Reilly,
  • Helena A. Yu,
  • Bob T. Li,
  • Charles M. Rudin,
  • Luis Diaz,
  • David B. Solit,
  • Maria E. Arcila,
  • Marc Ladanyi,
  • Brian Loomis,
  • Dana Tsui,
  • Michael F. Berger,
  • Ahmet Zehir,
  • Ryma Benayed

DOI
https://doi.org/10.1038/s41467-021-24109-5
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 12

Abstract

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Liquid biopsies allow the non-invasive detection of somatic mutations from tumours. Here, the authors develop and test MSK-ACCESS, an NGS-based clinical assay for identifying low frequency mutations in 129 genes and describe how it benefits patients in the clinic.