Characterization of the Osteosarcoma Genome

该项目目前正处于活跃的数据分析阶段。由于骨肉瘤是一种罕见的癌症，获得合适的生物标本是研究这种疾病的主要障碍。为了克服这一问题，有必要走出校内社区。已经与儿童肿瘤学小组(COG)建立了获得样本的合作，该小组是儿童癌症的主要国家合作临床试验小组，以对COG试验收集的样本进行排序。由于骨肉瘤已被目标项目(美国国立卫生研究院治疗应用研究)选中，以产生有效的治疗，http://target.cancer.gov/about/)，目标基础设施已被用于促进COG的合作。这项合作将提供样本进行分析。已经为一组骨肉瘤细胞系生成了数据。这将对该项目的长期目标非常有用，因为在这项研究过程中获得的生物学重要结果的功能研究可以使用特征良好的细胞系。我们现在正在积极分析通过TARGET计划收集的临床生物标本的数据。这需要对外显子体、转录体以及从选定的样本中获得的整个基因组进行测序。很大一部分数据已经存放在公共数据库中。我们目前的目标是识别与临床相关的基因组生物标记物，并识别可能具有治疗意义的基因和途径。

This project is now in an active data analysis phase. As osteosarcoma is a rare cancer, obtaining suitable biospecimens is a major obstacle to studying this disease. To overcome this problem it has been necessary to reach outside of the intramural community. A collaboration to obtain specimens has been established with the Childrens Oncology Group (COG), the primary national cooperative clinical trials group for pediatric cancer, to sequence specimens collected under COG trial. As osteosarcoma had been selected by the TARGET project (NCIs Therapeutically Applicable Research to Generate Effective Treatments, http://target.cancer.gov/about/), the TARGET infrastructure has been used to facilitate the COG collaboration. This collaboration will provide samples for analysis. Data generation has been generated for a panel of osteosarcoma cell lines. This will be highly useful for the long term goals of the project since well characterized cell lines can be used for functional investigation of the biologically important results obtained in the course of this research. We have now actively analyzing data from clinical biospecimens collected through the TARGET program. This entails the sequencing of exomes, transcriptomes, and, from selected specimens, whole genomes. A large proportion of the data has been deposited in public databases. Our current goals are to identify clinically relevant genomic biomarkers and to identify genes and pathways which may have therapeutic implications.