EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001006913EGAEGA study EGAS00001006913Clinical utility of combined low-pass whole genome and targeted sequencing in liquid biopsies for diagnosis and monitoring of pediatric solid tumorsEGArestrictedShakB, Antemortem Diagnoses, screening, Pas, l(1)W3, Antemortem Diagnosis, findings, cou, shB, shak-B, CG1321, inx8, CG32508, Tl3, Tl2, Diagnosis, Examination and Diagnoses, Diagnoses, nj-156, pas, pass, Lr, Postmortem, Screenings, Mass Screenings, Examinations and Diagnoses, Mass, symptoms, Screening, 2, R9-29, 3, Low, 6, Antemortem, Postmortem Diagnosis, W3, CG12678, Diagnoses and Examination, Postmortem Diagnoses, me75, Shak B, Biopsies, l(1)R-10-3, signs, l(1)19Eb, whole genome, Diagnoses and Examinations, l(1)TH73, D17Mit170, l(1)R-10-7, T1, Shak-B, CG34358, l(1)R-9-29, Dmel_CG12678, nj156, Dmel_CG32508, Bra, l(1)R-10-14, l(1)LB21, R-9-29, liquid, DmelCG34358, Diagnoses., shkB, l(1)W3b, CG15451, Diagnose, E81ShakB, Germinoma (morphologic abnormality), Bones and Bone Tissue, Materials, short stature, SOFT, Blood, KIDNEY NEOPL, CG1321, kidney tumour, CG32508, Tumor, osteogenic tissue, soft, Thyroid, dmTAF[[II]]230, Liquid Biopsies, renal tumours, pass, EMBRYONAL NEOPL, Bone and Bone, Neoplasm of the Germ Cell, neoplasm of kidney, 2, Kidney Cancers, 3, renal tumour, 6, Germ Cell Cancer, Kidney Cancer, Bone Tissues, Germ Cell and Embryonic Neoplasms, Fresh Frozen Plasmas, Fresh Frozen, me75, thymus nucleic acid, Shak B, Biopsies, TFIID TAF250, Thyroids, Genomes, cel, tumour of the kidney, Embryonal and Mixed, Tissue, Germ cell neoplasm NOS (morphologic abnormality), Renal Cancer, l(1)TH73, D17Mit170, free, T1, CG34358, Embryonal Cancers, tumor of the kidney, Condyles, onychodysplasia, l(1)LB21, R-9-29, Double-Stranded DNA, Biopsy, deoxyribonucleic acids, DNAn, Germ cell neoplasm (morphologic abnormality), shkB, Bony Apophyses, germ cell cancer, l(1)W3b, plasma, Neoplasm of Germ Cell, Tumors, Pas, l(1)W3, dTAF[[II]]230, Frozen Plasma, Germ cell neoplasm, wide/broad, THYROID, shB, Genome Sequencing, TAF200, inx8, Double-Stranded, TAFII-250, Tl3, TAF250/230, Tl2, Plasmas, germ cell tumour, nj-156, (Deoxyribonucleotide)n+m, pas, TAFII250, Complete Genome, tumour of kidney, Gland, Genetic Materials, Germ Cell, NOS, simple tissue, thyroid, renal tumor, PIX2, desoxyribose nucleic acid, W3, Genetic Material, malignant tumor of the germ cell, Germ Cell Tumors, tumor of kidney, portion of bone tissue, Kidney, GERM CELL EMBRYONAL NEOPL, Germ Cell Tumor, l(1)R-10-3, INSDC_feature:gene, whole genome, Germ Cell Cancers, Condyle, CG17603, NEOPL KIDNEY, TAF[[II]], l(1)R-10-7, Shak-B, wide, Bony, Dmel_CG12678, Taf250, Patient, Material, bone, SR3-5, ds DNA, facial dysmorphism, Liquid, Embryonal, Cistron, DNA, Bony Apophysis, Bone, TAF230, kidney neoplasm (disease), Fresh, d230, DNS, Fresh Frozen Plasma, (Deoxyribonucleotide)n, Embryonal Cancer, Neoplasms, shak-B, number, neoplasm of the kidney, Gene, dTAFII250, Tumor of the Germ Cell, broad, renal neoplasm, EfW1, presence, Deoxyribonucleic acids, and hypotrichosis, Kidney Neoplasms, Cancer of the Kidney, Deoxyribonucleic Acid, dmTAF1, Taf230, R9-29, Low, Thyroid Glands, TAF250, NEOPL GERM CELL EMBRYONIC, Tumor of Germ Cell, Taf200, Blood Plasma, Complete, Glands, Whole Genome, dTAF[[II]]250, Genetic, Embryonal Neoplasm, [M]Germ cell neoplasm NOS, cell, Tissues, Complete Genome Sequencing, Double Stranded, Taf1p, Renal, Deoxyribonucleic acid, Sequencing, l(1)R-9-29, dTAF250, nj156, Dmel_CG32508, Clients, Whole, Blood Plasmas, Apophysis, DmelCG34358, (Deoxyribonucleotide)m, TAF, CG15451, Cancer, [M]Germ cell neoplasms, [M]Germ cell neoplasm NOS (morphologic abnormality), WGS, TAF[[II]]250, Germ cell neoplasms (morphologic abnormality), NEOPL GERM CELL, cou, Apophyses, germ cell tumor, DNAn+1, Thyroid., Germ Cell and Embryonic, renal tumors, Germ Cell and Embryonal Neoplasms, l(3)84Ab, BG:DS00004.13, Cistrons, Client, Cell, dTAF230, Bones and Bone, Frozen Plasmas, count in organism, Lr, Cancer of Kidney, glandula thyroidea, p230, Neoplasm, TAF[[II]]250/230, TFIID, bones, Renal Cancers, Germinoma, ds-DNA, WDR51A, CG12678, Taf[[II]]250, Plasma, Renal Neoplasms, osseous tissue, TAF[[II]]230, RENAL NEOPL, Germ cell tumor, portion of plasma, germ cell tumor (disorder), TAF[II]250, l(1)19Eb, Cancers, Bones, [M]Germ cell neoplasms (morphologic abnormality), DmelCG17603, mineralized bone tissue, kidney neoplasm, Bone Tissue, kidney tumor, Germ Cell Neoplasms, cardinality, Bra, Desoxyribonukleinsaeure, l(1)R-10-14, calcium tissue, bone organ, Embryonal Neoplasms, Renal Neoplasm, E81, TAF1falseClinical utility of combined low-pass whole genome and targeted sequencing in liquid biopsies for diagnosis and monitoring of pediatric solid tumorsWe 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.2023-01-24 15:23:33EGAS000010069139606EGAD00001009972EGAC00001003052