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Updated: Jul 9, 2025

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A Practical Guide to Phylogenetics for Nonexperts
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康尼弗 (CONIPHER):一个计算框架,用于具有错误纠正的可扩展的家族遗传重建
Kristiana Grigoriadis1,2,3, Ariana Huebner1,2,3, Abigail Bunkum1,4,5
1Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.
Nature protocols
|November 28, 2023
概括
康尼弗通过纠正序列错误和副本数量改变,准确地重建瘤演变. 这种计算框架从DNA测序数据中改进了癌症亚克隆架构的遗传学分析.
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:
- 瘤内部的异质性推动了癌症的演变.
- 从DNA测序中准确推断瘤亚克隆结构和进化史,由于文物和错误而具有挑战性.
- 现有的方法难以应对拷贝数的变化和突变损失,这会影响遗传学重建.
研究的目的:
- 介绍CONIPHER,用于准确推断瘤亚克隆结构和系遗传关系的计算框架.
- 为了应对瘤进化史重建的挑战,从多样本DNA测序数据重建.
- 为分析复杂的癌症基因组提供强大的工具.
主要方法:
- 开发了CONIPHER (在植物遗传评估和重建中纠正噪声) 计算框架.
- 对复制数的变化和基因组分析中的突变错误进行核算.
- 适用于多样本瘤测序数据,包括全外体测序和初级转移病例.
主要成果:
- 康尼弗精确地推断出亚克隆结构和家族遗传关系.
- 该框架成功地被应用到从TRACERx421数据集中重建瘤系谱.
- 在模拟数据上,CONIPHER的性能优于类似的方法,并可扩展到大型数据集.
结论:
- 康尼弗提供了一种准确而强大的方法来重建瘤进化史.
- 该框架可用于跨不同技术的大规模测序数据集的自动化基因分析.
- 对于具有基本生物信息学和脚本知识的用户来说,CONIPHER是可访问的.
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