Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors
Top Cited Papers
- 1 May 2016
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Oncology
- Vol. 2 (5), 616-624
- https://doi.org/10.1001/jamaoncol.2015.5699
Abstract
Genome-scale sequencing methods such as whole-exome sequencing (WES) have provided significant insight into the pathogenesis of cancer as well as a wide spectrum of human diseases.1 Recent studies have begun to establish the yield of WES for the diagnosis of Mendelian disorders and the discovery of incidental (non–phenotype-related) medically actionable findings.2-4 However, experience with the use of these tests in the care of patients with cancer remains limited.Keywords
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