Novel Algorithms for Detecting the Clonal Composition and Monitoring the Evolution of Tumours via Liquid Biopsies Sequencing Data

。癌症是一种基因组疾病-更具体地说，是人类细胞中基因组DNA在一生中获得的突变，这些突变扰乱了细胞的关键功能，使它们无法控制地生长。DNA测序项目让我们发现，癌症电话涉及许多基因变化，即使在一个肿瘤中，往往也有多个癌细胞群体，每个癌细胞群体都带有自己的突变。了解这一系列突变很重要，因为我们需要选择杀死所有癌细胞的治疗方法，而不仅仅是部分癌细胞。不幸的是，现有的用于分析由基因组测序技术产生的“正常”人类基因组数据的计算机程序范围有限，因为它们不能完全表征肿瘤组织单个细胞中存在的所有突变。理想的情况是，研究人员希望监测癌细胞的基因组如何随着时间的推移发生突变，在同一组织内形成不同的肿瘤克隆，以及癌细胞如何通过血流或尿路传播并在其他组织中定居，形成转移肿瘤。新的液体活组织检查技术使捕获血液中循环的肿瘤DNA并对其进行排序成为可能，然而，分析此类数据并识别和分类单个患者的突变谱将需要新的数学和计算方法。

. Cancer is a disease of the genome - more specifically mutations acquired by the genomic DNA in the cells of a human over a lifetime, which disrupt the cells' key functions and make them grow uncontrollably. DNA sequencing projects have led us to discover that cancer calls involve many genetic changes and that even in a single tumour, there are often multiple cancer cell populations that each carry their own mutations. Understanding this collection of mutations is important because we need to select therapies that kill all of the cancer cells, not just some of them. Unfortunately, existing computer programs for analyzing "normal" human genome data generated by genome sequencing technologies are limited in scope because they cannot fully characterize all the mutations present in the individual cells of a tumour tissue. Ideally, researchers would like to monitor how the genomes of cancer cells mutate over time, forming distinct tumour clones within the same tissue, and how cancer cells travel through the blood stream or the urinary tract and colonize other tissues, forming metastatic tumours. The new liquid biopsy technology has made it possible to capture tumour DNA circulating in the blood stream and to sequence it, however analyzing such data and identifying and cataloguing the spectrum of mutations in an individual patient will require new mathematical and computational approaches.