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CNETML:从多个样本的副本编号配置文件中推断出族系发生的最大概率

Bingxin Lu^1,2, Kit Curtius^3,4, Trevor A Graham^3,5

¹Department of Cell and Developmental Biology, University College London, London, UK. b.lu@ucl.ac.uk.

|June 20, 2023

概括

我们开发了CNETML,这是一种使用患者样本的复制号数据构建癌症进化系谱的新方法. 这种工具有助于理解瘤的发展,并识别早期的遗传变化.

科学领域:

基因组学就是基因组学.
计算生物学计算生物学
癌症研究癌症研究

背景情况:

通过分析来自患者样本的复制号配置文件,基因树对于理解癌症演变至关重要.
现有的方法可能无法从纵向数据中充分捕捉瘤发育的复杂性.

研究的目的:

引入CNETML,一种用于推断癌症类型的新型最大概率方法.
为了能够从纵向样本中的总副本数量共同推断树的拓,节点年龄和突变率.

主要方法:

开发了基于最大概率的计算工具CNETML.
从纵向患者样本中使用的总副本数用于基因推断.

主要成果:

CNETML成功地推断了家族系,共同估计了树木拓,节点年龄和突变率.
模拟显示,CNETML在与 ploidy 相对的副本数量以及在较小的模型假设违规性方面表现强.
对真实数据的应用与先前的发现保持一致,并揭示了新的早期副本数事件.

结论:

CNETML是第一个从纵向样本的总副本数量中联合推断家谱和进化参数的程序.
该方法为研究癌症进化和识别早期基因组变化的研究提供了一种强大的新方法.

关键词:

副本编号更改副本编号更改低覆盖范围的测序.最大的可能性.演化模型的演化模型.族系学推断的推断.

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