Feasibility and Clinical Utility of Whole Genome Profiling in Pediatric and Young Adult Cancers

Comprehensive Whole Genome Sequencing and Whole Transcriptome (RNASeq) analyses from 114 pediatric patients at Memorial Sloan Kettering. This dataset was used as a prospective clinical utility and feasibility study. By using our Isabl infrastructure for precision medicine, we developed a 2-week end-to-end pipeline to analyze cfDNA, WGS and WTS, which we refer to as cWGTS.]]>
Pediatric patients diagnosed with solid/CNS tumors, as well as adults under the age of 40, with pediatric-type solid/CNS tumors were eligible to enroll. Patients were eligible to enroll at any point during their disease course (i.e., newly diagnosed, on therapy, or relapsed disease). All participating patients enrolled in to an institutional prospective tumor/germline sequencing protocol (ClinicalTrials.gov NCT01775072) with informed consent. Patients were required to have adequate tissue for both targeted NGS sequencing and whole genome sequencing, with at least 20% tumor purity for inclusion onto the study.

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