3、Main ...
-
In recent years, several large-scale whole-genome sequencing (WGS) analysis efforts have yielded valuable insights into the diversity of the molecular processes that drive different types of □□ and paediatric cancer and have fuelled the promises of genome-driven oncology care.
近年来，几项大规模全基因组测序分析工作已对【驱动不同类型的成人和儿童癌症的】分子过程的多样性提供了宝贵见解，并推进了基因组驱动的肿瘤治疗的发展。
However, most analyses were done on primary tumour material, whereas metastatic cancers—which cause the bulk of the disease burden and 90% of all cancer deaths—have been less comprehensively studied at the whole-genome level, with previous efforts focusing on tumour-specific cohorts or at a targeted gene panel or exome level.
但是，大多数分析是基于原发性肿瘤的资料，然而转移癌——加重疾病负荷，致死数为癌症总死亡人数的90％——在全基因组层面的广泛研究较少，而之前的研究精力集中在肿瘤队列，或靶向基因面板，或者外显子组层面。
As cancer genomes evolve over time, both in the highly heterogeneous primary tumour mass and as disseminated metastatic cells, a better understanding of metastatic cancer genomes will be highly valuable to improve on adapting treatments for late-stage cancers.
随着癌症基因组随时间推移而生长，无论是在非均质性严重的原发肿瘤块中，还是在扩散的转移细胞中，对转移癌症基因组的更充分理解，对于更好地调整晚期癌症的疗法将具有很高价值。
Here we describe the pan-cancer whole-genome landscape of meta-static cancers based on 2,520 paired tumour and normal genomes from 2,399 patients.
在这篇文章中，基于来自2,399位患者的2,520对相对的肿瘤与正常基因组，我们描述了转移癌症的泛癌症全基因组态势。
The sample distribution over age and primary tumour types broadly reflects the incidence of solid cancers in the Western world, including rare cancers.
样本在年龄与原发肿瘤类型上的分布，广泛反映了包括罕见癌症在内的西方世界实体癌的发病率。
Sequencing data were analysed using an optimized bioinformatic pipeline based on open source tools and identified a total of 59,472,629 single nucleotide variants, 839,126 multiple nucleotide variants, 9,598,205 insertions and deletions and 653,452 structural variants.
测序数据采用基于开源工具的优化生物信息学管道进行分析，共鉴定出59472,629个单核苷酸变异，839,126个多核苷酸变异，9,598,205个插入和缺失，以及653,452个结构变异。
作者有话说
第3章 Main
