Nature Communications (May 2022)
Automated next-generation profiling of genomic alterations in human cancers
- Laurel A. Keefer,
- James R. White,
- Derrick E. Wood,
- Kelly M. R. Gerding,
- Kenneth C. Valkenburg,
- David Riley,
- Christopher Gault,
- Eniko Papp,
- Christine M. Vollmer,
- Amy Greer,
- James Hernandez,
- Paul M. McGregor,
- Adriana Zingone,
- Bríd M. Ryan,
- Kristen Deak,
- Shannon J. McCall,
- Michael B. Datto,
- James L. Prescott,
- John F. Thompson,
- Gustavo C. Cerqueira,
- Siân Jones,
- John K. Simmons,
- Abigail McElhinny,
- Jennifer Dickey,
- Samuel V. Angiuoli,
- Luis A. Diaz,
- Victor E. Velculescu,
- Mark Sausen
Affiliations
- Laurel A. Keefer
- Personal Genome Diagnostics Inc.
- James R. White
- Personal Genome Diagnostics Inc.
- Derrick E. Wood
- Personal Genome Diagnostics Inc.
- Kelly M. R. Gerding
- Personal Genome Diagnostics Inc.
- Kenneth C. Valkenburg
- Personal Genome Diagnostics Inc.
- David Riley
- Personal Genome Diagnostics Inc.
- Christopher Gault
- Personal Genome Diagnostics Inc.
- Eniko Papp
- Personal Genome Diagnostics Inc.
- Christine M. Vollmer
- Personal Genome Diagnostics Inc.
- Amy Greer
- Personal Genome Diagnostics Inc.
- James Hernandez
- Personal Genome Diagnostics Inc.
- Paul M. McGregor
- Personal Genome Diagnostics Inc.
- Adriana Zingone
- Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute
- Bríd M. Ryan
- Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute
- Kristen Deak
- Department of Pathology, Duke University School of Medicine
- Shannon J. McCall
- Department of Pathology, Duke University School of Medicine
- Michael B. Datto
- Department of Pathology, Duke University School of Medicine
- James L. Prescott
- PathGroup
- John F. Thompson
- Personal Genome Diagnostics Inc.
- Gustavo C. Cerqueira
- Personal Genome Diagnostics Inc.
- Siân Jones
- Personal Genome Diagnostics Inc.
- John K. Simmons
- Personal Genome Diagnostics Inc.
- Abigail McElhinny
- Personal Genome Diagnostics Inc.
- Jennifer Dickey
- Personal Genome Diagnostics Inc.
- Samuel V. Angiuoli
- Personal Genome Diagnostics Inc.
- Luis A. Diaz
- Department of Medicine, Memorial Sloan Kettering Cancer Center
- Victor E. Velculescu
- Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine
- Mark Sausen
- Personal Genome Diagnostics Inc.
- DOI
- https://doi.org/10.1038/s41467-022-30380-x
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 15
Abstract
The genomic profiling of tumours has not been widely adopted in the clinic due to technical and practical hurdles. Here, the authors develop PGDx elio tissue complete, a scalable, standardised and FDA-cleared test comprising a targeted gene panel and automated machine-learning analysis, which detects clinically relevant sequence biomarkers in cancer samples.
