Clinical utility of combined low-pass whole genome and targeted sequencing in liquid biopsies for diagnosis and monitoring of pediatric solid tumors

We designed a liquid biopsy (LB) platform employing Low-Pass Whole Genome Sequencing (LP-WGS)
and targeted sequencing of cell-free (cf) DNA isolated from plasma for detecting genome-wide copy
number alterations and targeted gene fusions in pediatric solid tumors. A total of 143 plasma samples
were analyzed from 19 controls (patients with non-oncologic diagnoses) and 73 patients, including 44
with bone or soft tissue sarcomas, 12 with renal tumors, 10 with germ cell tumors, 5 with hepatic
tumors, and 2 with thyroid tumors.EGA study EGAS00001006913