Ciccolella Simone, Patterson Murray, Bonizzoni Paola, Della Vedova Gianluca
IEEE J Biomed Health Inform. 2021 Nov;25(11):4068-4078. doi: 10.1109/JBHI.2021.3081380. Epub 2021 Nov 5.
Single cell sequencing (SCS) technologies provide a level of resolution that makes it indispensable for inferring from a sequenced tumor, evolutionary trees or phylogenies representing an accumulation of cancerous mutations. A drawback of SCS is elevated false negative and missing value rates, resulting in a large space of possible solutions, which in turn makes it difficult, sometimes infeasible using current approaches and tools. One possible solution is to reduce the size of an SCS instance - usually represented as a matrix of presence, absence, and uncertainty of the mutations found in the different sequenced cells - and to infer the tree from this reduced-size instance. In this work, we present a new clustering procedure aimed at clustering such categorical vector, or matrix data - here representing SCS instances, called celluloid. We show that celluloid clusters mutations with high precision: never pairing too many mutations that are unrelated in the ground truth, but also obtains accurate results in terms of the phylogeny inferred downstream from the reduced instance produced by this method. We demonstrate the usefulness of a clustering step by applying the entire pipeline (clustering + inference method) to a real dataset, showing a significant reduction in the runtime, raising considerably the upper bound on the size of SCS instances which can be solved in practice. Our approach, celluloid: clustering single cell sequencing data around centroids is available at https://github.com/AlgoLab/celluloid/ under an MIT license, as well as on the Python Package Index (PyPI) at https://pypi.org/project/celluloid-clust/.
单细胞测序(SCS)技术提供了一种分辨率水平,这使得它对于从测序肿瘤中推断代表癌性突变积累的进化树或系统发育至关重要。SCS的一个缺点是假阴性率和缺失值率较高,导致可能的解决方案空间很大,这反过来又使得使用当前方法和工具变得困难,有时甚至不可行。一种可能的解决方案是减小SCS实例的大小——通常表示为在不同测序细胞中发现的突变的存在、缺失和不确定性的矩阵——并从这个减小尺寸的实例中推断树。在这项工作中,我们提出了一种新的聚类程序,旨在对这种分类向量或矩阵数据进行聚类——这里表示SCS实例,称为赛璐珞(celluloid)。我们表明,赛璐珞能高精度地聚类突变:从不将太多在真实情况中无关的突变配对在一起,而且在从该方法产生的减小实例下游推断的系统发育方面也能获得准确的结果。我们通过将整个流程(聚类 + 推理方法)应用于一个真实数据集来证明聚类步骤的有用性,结果显示运行时间显著减少,大大提高了在实际中可以解决的SCS实例大小的上限。我们的方法,赛璐珞:围绕质心聚类单细胞测序数据,可在https://github.com/AlgoLab/celluloid/ 上以MIT许可获取,也可在Python包索引(PyPI)上的https://pypi.org/project/celluloid-clust/ 获得。