Osteosarcoma exomes. Homo sapiens

Osteosarcomas are aggressive bone tumors with a high degree of genetic heterogeneity which has historically complicated driver gene discovery. Here we sequence OS exomes and decipher their evolutionary landscape by inferring clonality of the individual mutation events. Exome findings are interpreted in the context of mutation and SNP array data from a replication set.

骨肉瘤（Osteosarcomas）是一类侵袭性骨肿瘤，具有高度的遗传异质性，该特性长期以来给驱动基因的发掘工作带来了极大阻碍。本研究对骨肉瘤（OS）外显子组进行测序，并通过推断单个突变事件的克隆性，解析其进化图谱。随后，本研究结合重复队列的突变数据与单核苷酸多态性（SNP）阵列数据，对外显子组测序结果进行整合解读。