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，人类细胞中的基因组DNA在一生中发生突变，破坏了细胞的关键功能，使它们无法控制地生长。DNA测序项目使我们发现，癌症涉及许多遗传变化，即使在一个肿瘤中，通常也有多个癌细胞群，每个癌细胞群都携带自己的突变。了解这些突变的集合是很重要的，因为我们需要选择杀死所有癌细胞的疗法，而不仅仅是其中的一些。不幸的是，用于分析由基因组测序技术产生的“正常”人类基因组数据的现有计算机程序在范围上是有限的，因为它们不能完全表征肿瘤组织的个体细胞中存在的所有突变。理想情况下，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，在同一组织中形成不同的肿瘤克隆，以及癌细胞如何通过血流或尿路并定植在其他组织中，形成转移性肿瘤。新的液体活检技术使捕获血液中循环的肿瘤DNA并对其进行测序成为可能，然而分析这些数据并识别和编目个体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.