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
Affiliations
- Matthew H. Bailey
- The McDonnell Genome Institute at Washington University
- William U. Meyerson
- Yale School of Medicine, Yale University
- Lewis Jonathan Dursi
- Computational Biology Program, Ontario Institute for Cancer Research
- Liang-Bo Wang
- The McDonnell Genome Institute at Washington University
- Guanlan Dong
- Division of Oncology, Department of Medicine, Washington University School of Medicine
- Wen-Wei Liang
- The McDonnell Genome Institute at Washington University
- Amila Weerasinghe
- The McDonnell Genome Institute at Washington University
- Shantao Li
- Program in Computational Biology and Bioinformatics, Yale University
- Yize Li
- The McDonnell Genome Institute at Washington University
- Sean Kelso
- Division of Oncology, Department of Medicine, Washington University School of Medicine
- MC3 Working Group
- PCAWG novel somatic mutation calling methods working group
- Gordon Saksena
- Broad Institute of MIT and Harvard
- Kyle Ellrott
- Biomedical Engineering, Oregon Health and Science University
- Michael C. Wendl
- The McDonnell Genome Institute at Washington University
- David A. Wheeler
- Human Genome Sequencing Center, Baylor College of Medicine
- Gad Getz
- Broad Institute of MIT and Harvard
- Jared T. Simpson
- Computational Biology Program, Ontario Institute for Cancer Research
- Mark B. Gerstein
- Program in Computational Biology and Bioinformatics, Yale University
- Li Ding
- The McDonnell Genome Institute at Washington University
- PCAWG Consortium
- DOI
- https://doi.org/10.1038/s41467-020-18151-y
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 27
Abstract
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.
