Nature Communications (Sep 2020)

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

  • Matthew H. Bailey,
  • William U. Meyerson,
  • Lewis Jonathan Dursi,
  • Liang-Bo Wang,
  • Guanlan Dong,
  • Wen-Wei Liang,
  • Amila Weerasinghe,
  • Shantao Li,
  • Yize Li,
  • Sean Kelso,
  • MC3 Working Group,
  • PCAWG novel somatic mutation calling methods working group,
  • Gordon Saksena,
  • Kyle Ellrott,
  • Michael C. Wendl,
  • David A. Wheeler,
  • Gad Getz,
  • Jared T. Simpson,
  • Mark B. Gerstein,
  • Li Ding,
  • PCAWG Consortium

DOI
https://doi.org/10.1038/s41467-020-18151-y
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 27

Abstract

Read online

With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.