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- Title
Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene.
- Authors
Welch, John S.; Westervelt, Peter; Li Ding; Larson, David E.; Klco, Jeffery M.; Kulkarni, Shashikant; Wallis, John; Chen, Ken; Payton, Jacqueline E.; Fulton, Robert S.; Veizer, Joelle; Schmidt, Heather; Vickery, Tammi L.; Heath, Sharon; Watson, Mark A.; Tomasson, Michael H.; Link, Daniel C.; Graubert, Timothy A.; DiPersio, John F.; Mardis, Elaine R.
- Abstract
The article describes the case of a 39-year-old woman with acute myeloid leukemia (AML) on whom whole-genome sequencing was conducted to identify cryptic, actionable genetic mutations in a clinically relevant time frame. She was enrolled in an institutional review board-approved protocol that maintained patient anonymity within the research team but which allowed the latter to communicate medically relevant information to the treating physician. A cytogenetically cryptic event was identified through the use of massively parallel paired-end sequencing.
- Subjects
DISEASES in older women; ACUTE myeloid leukemia; NUCLEOTIDE sequence; GENETIC mutation; GENETICS
- Publication
JAMA: Journal of the American Medical Association, 2011, Vol 305, Issue 15, p1577
- ISSN
0098-7484
- Publication type
Case Study
- DOI
10.1001/jama.2011.497