Suppr超能文献

从 DNA 测序解析癌症亚克隆的实用指南

A practical guide to cancer subclonal reconstruction from DNA sequencing.

机构信息

The Francis Crick Institute, London, UK.

Wellcome Sanger Institute, Hinxton, UK.

出版信息

Nat Methods. 2021 Feb;18(2):144-155. doi: 10.1038/s41592-020-01013-2. Epub 2021 Jan 4.

Abstract

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.

摘要

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。

相似文献

1
A practical guide to cancer subclonal reconstruction from DNA sequencing.
Nat Methods. 2021 Feb;18(2):144-155. doi: 10.1038/s41592-020-01013-2. Epub 2021 Jan 4.
2
A regression based approach to phylogenetic reconstruction from multi-sample bulk DNA sequencing of tumors.
PLoS Comput Biol. 2024 Dec 4;20(12):e1012631. doi: 10.1371/journal.pcbi.1012631. eCollection 2024 Dec.
3
The Subclonal Architecture of Metastatic Breast Cancer: Results from a Prospective Community-Based Rapid Autopsy Program "CASCADE".
PLoS Med. 2016 Dec 27;13(12):e1002204. doi: 10.1371/journal.pmed.1002204. eCollection 2016 Dec.
6
Can a Liquid Biopsy Detect Circulating Tumor DNA With Low-passage Whole-genome Sequencing in Patients With a Sarcoma? A Pilot Evaluation.
Clin Orthop Relat Res. 2025 Jan 1;483(1):39-48. doi: 10.1097/CORR.0000000000003161. Epub 2024 Jun 21.
8
A community effort to create standards for evaluating tumor subclonal reconstruction.
Nat Biotechnol. 2020 Jan;38(1):97-107. doi: 10.1038/s41587-019-0364-z. Epub 2020 Jan 9.

引用本文的文献

2
Mitochondrial clone tracing within spatially intact human tissues.
bioRxiv. 2025 Jul 17:2025.07.11.664452. doi: 10.1101/2025.07.11.664452.
3
Informatics at the Frontier of Cancer Research.
Cancer Res. 2025 Aug 15;85(16):2967-2986. doi: 10.1158/0008-5472.CAN-24-2829.
4
Competing Subclones and Fitness Diversity Shape Tumor Evolution Across Cancer Types.
bioRxiv. 2025 Jun 3:2025.05.31.657191. doi: 10.1101/2025.05.31.657191.
5
Acquired resistance in cancer: towards targeted therapeutic strategies.
Nat Rev Cancer. 2025 Jun 3. doi: 10.1038/s41568-025-00824-9.
7
Evolutionary paths towards metastasis.
Nat Rev Cancer. 2025 Apr 22. doi: 10.1038/s41568-025-00814-x.
8
Advances in tumor subclone formation and mechanisms of growth and invasion.
J Transl Med. 2025 Apr 21;23(1):461. doi: 10.1186/s12967-025-06486-3.

本文引用的文献

1
Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.
Cell. 2021 Apr 15;184(8):2239-2254.e39. doi: 10.1016/j.cell.2021.03.009. Epub 2021 Apr 7.
2
Quantifying the influence of mutation detection on tumour subclonal reconstruction.
Nat Commun. 2020 Dec 7;11(1):6247. doi: 10.1038/s41467-020-20055-w.
3
Subclonal reconstruction of tumors by using machine learning and population genetics.
Nat Genet. 2020 Sep;52(9):898-907. doi: 10.1038/s41588-020-0675-5. Epub 2020 Sep 2.
4
Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue.
Cell Rep. 2020 May 5;31(5):107550. doi: 10.1016/j.celrep.2020.107550.
5
The evolutionary history of 2,658 cancers.
Nature. 2020 Feb;578(7793):122-128. doi: 10.1038/s41586-019-1907-7. Epub 2020 Feb 6.
6
Inferring structural variant cancer cell fraction.
Nat Commun. 2020 Feb 5;11(1):730. doi: 10.1038/s41467-020-14351-8.
7
Tobacco smoking and somatic mutations in human bronchial epithelium.
Nature. 2020 Feb;578(7794):266-272. doi: 10.1038/s41586-020-1961-1. Epub 2020 Jan 29.
8
A community effort to create standards for evaluating tumor subclonal reconstruction.
Nat Biotechnol. 2020 Jan;38(1):97-107. doi: 10.1038/s41587-019-0364-z. Epub 2020 Jan 9.
9
Genomic evidence supports a clonal diaspora model for metastases of esophageal adenocarcinoma.
Nat Genet. 2020 Jan;52(1):74-83. doi: 10.1038/s41588-019-0551-3. Epub 2020 Jan 6.
10
Clonal Decomposition and DNA Replication States Defined by Scaled Single-Cell Genome Sequencing.
Cell. 2019 Nov 14;179(5):1207-1221.e22. doi: 10.1016/j.cell.2019.10.026.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验