WGS and WES of pediatric osteosarcoma

Despite being the most common childhood bone tumor, the genomic characterization of osteosarcoma remains incomplete. Very few metastatic cases have been sequenced to date, a required step to better understand the progression and evolution of this tumor. Here, we present an integrative analysis of whole genome and whole exome sequencing (WGS and WES) of a cohort of primary and metastatic pediatric osteosarcoma, in order to identify recurrent genomic alterations between and within patients.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001004482	Whole genome sequencing and whole exome sequencing of 13 pediatric osteosarcoma patients including 13 primary, 10 metastatic, and 3 relapsed tumors.	Illumina HiSeq 2000 Illumina HiSeq 2500	78

Publications	Citations
Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma. Negri GL, Grande BM, Delaidelli A, El-Naggar A, Cochrane D, Lau CC, Triche TJ, Moore RA, Jones SJ, Montpetit A, Marra MA, Malkin D, Morin RD, Sorensen PH. J Pathol 249: 2019 319-331	17
Evolving copy number gains promote tumor expansion and bolster mutational diversification. Wang Z, Xia Y, Mills L, Nikolakopoulos AN, Maeser N, Dehm SM, Sheltzer JM, Sun R. Nat Commun 15: 2024 2025	1