Article
Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors.
JCO precision oncology - 1 Jun 2026
Nagy Matthew, Bhattacharjee Andy, Cinelli Abigail, Housman David, Kamihara Junne, Schienda Jaclyn, Hamilton Kayla, Cibulskis Carrie, Ng Christopher, Fields Noah, Sun Baihe, Collins Ryan, Parad Richard B, Diller Lisa, Gillani Riaz
Abstract excerpt
PURPOSE: Many children with very early-onset solid tumors remain without an identified germline risk factor after negative panel testing. Whole-genome sequencing (WGS) enables detection of large structural variants (SVs) and rare loss-of-function variants in highly constrained genes that are not routinely captured by standard clinical assays. The additional yield and spectrum of germline findings identified by...
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