The Francis Crick Institute, London, UK.
Wellcome Sanger Institute, Hinxton, UK.
Nat Methods. 2021 Feb;18(2):144-155. doi: 10.1038/s41592-020-01013-2. Epub 2021 Jan 4.
Subclonal reconstruction from bulk tumor DNA sequencing has become a pillar of cancer evolution studies, providing insight into the clonality and relative ordering of mutations and mutational processes. We provide an outline of the complex computational approaches used for subclonal reconstruction from single and multiple tumor samples. We identify the underlying assumptions and uncertainties in each step and suggest best practices for analysis and quality assessment. This guide provides a pragmatic resource for the growing user community of subclonal reconstruction methods.
从肿瘤组织的大量 DNA 测序中进行亚克隆重建已经成为癌症进化研究的一个重要支柱,为研究突变的克隆性和相对顺序以及突变过程提供了深入的见解。我们提供了从单个和多个肿瘤样本中进行亚克隆重建所使用的复杂计算方法的概述。我们确定了每个步骤中的基本假设和不确定性,并为分析和质量评估提出了最佳实践建议。本指南为越来越多的亚克隆重建方法用户提供了一个实用的资源。