• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
Computational approaches for discovery of mutational signatures in cancer.癌症中突变特征发现的计算方法。
Brief Bioinform. 2019 Jan 18;20(1):77-88. doi: 10.1093/bib/bbx082.
2
Mechanisms underlying mutational signatures in human cancers.人类癌症中突变特征的潜在机制。
Nat Rev Genet. 2014 Sep;15(9):585-98. doi: 10.1038/nrg3729. Epub 2014 Jul 1.
3
Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.利用交互式软件 BasePlayer 发现人类编码和非编码基因组中的潜在致病突变。
Nat Protoc. 2018 Nov;13(11):2580-2600. doi: 10.1038/s41596-018-0052-3.
4
Bioinformatic Methods to Identify Mutational Signatures in Cancer.生物信息学方法在癌症突变特征识别中的应用。
Methods Mol Biol. 2021;2185:447-473. doi: 10.1007/978-1-0716-0810-4_28.
5
Base changes in tumour DNA have the power to reveal the causes and evolution of cancer.肿瘤DNA中的碱基变化能够揭示癌症的病因和演变过程。
Oncogene. 2017 Jan 12;36(2):158-167. doi: 10.1038/onc.2016.192. Epub 2016 Jun 6.
6
DNA copy number profiling using single-cell sequencing.使用单细胞测序进行 DNA 拷贝数分析。
Brief Bioinform. 2018 Sep 28;19(5):731-736. doi: 10.1093/bib/bbx004.
7
Mutational signatures: the patterns of somatic mutations hidden in cancer genomes.突变特征:隐藏在癌症基因组中的体细胞突变模式。
Curr Opin Genet Dev. 2014 Feb;24(100):52-60. doi: 10.1016/j.gde.2013.11.014. Epub 2013 Dec 29.
8
Deciphering signatures of mutational processes operative in human cancer.解析人类癌症中发生的突变过程特征。
Cell Rep. 2013 Jan 31;3(1):246-59. doi: 10.1016/j.celrep.2012.12.008. Epub 2013 Jan 10.
9
Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data.从深度测序数据中识别体细胞拷贝数改变的方法的比较分析。
Brief Bioinform. 2015 Mar;16(2):242-54. doi: 10.1093/bib/bbu004. Epub 2014 Mar 5.
10
Understanding mutagenesis through delineation of mutational signatures in human cancer.通过描绘人类癌症中的突变特征来理解诱变作用。
Carcinogenesis. 2016 Jun;37(6):531-40. doi: 10.1093/carcin/bgw055. Epub 2016 May 4.

引用本文的文献

1
Comprehensive analysis of mutational processes across 20 000 adult and pediatric tumors.对20000例成人和儿童肿瘤的突变过程进行综合分析。
Nucleic Acids Res. 2025 Jul 8;53(13). doi: 10.1093/nar/gkaf648.
2
Advancing precision oncology with AI-powered genomic analysis.通过人工智能驱动的基因组分析推动精准肿瘤学发展。
Front Pharmacol. 2025 Apr 30;16:1591696. doi: 10.3389/fphar.2025.1591696. eCollection 2025.
3
Comprehensive cross cancer analyses reveal mutational signature cancer specificity.全面的跨癌症分析揭示了突变特征的癌症特异性。
Quant Biol. 2024 Sep;12(3):245-254. doi: 10.1002/qub2.49. Epub 2024 Jun 5.
4
Topography of mutational signatures in non-small cell lung cancer: emerging concepts, clinical applications, and limitations.非小细胞肺癌中突变特征的拓扑结构:新兴概念、临床应用及局限性。
Oncologist. 2024 Oct 3;29(10):833-841. doi: 10.1093/oncolo/oyae091.
5
Model selection and robust inference of mutational signatures using Negative Binomial non-negative matrix factorization.使用负二项式非负矩阵分解进行突变特征的模型选择和稳健推断。
BMC Bioinformatics. 2023 May 8;24(1):187. doi: 10.1186/s12859-023-05304-1.
6
Computational Methods Summarizing Mutational Patterns in Cancer: Promise and Limitations for Clinical Applications.总结癌症突变模式的计算方法:临床应用的前景与局限
Cancers (Basel). 2023 Mar 24;15(7):1958. doi: 10.3390/cancers15071958.
7
Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.与卵巢畸胎瘤来源的鳞状细胞癌中 APOBEC 诱变相关的空间基因组多样性。
Cancer Sci. 2023 May;114(5):2145-2157. doi: 10.1111/cas.15754. Epub 2023 Feb 21.
8
scAB detects multiresolution cell states with clinical significance by integrating single-cell genomics and bulk sequencing data.scAB 通过整合单细胞基因组学和批量测序数据,以检测具有临床意义的多分辨率细胞状态。
Nucleic Acids Res. 2022 Nov 28;50(21):12112-12130. doi: 10.1093/nar/gkac1109.
9
Bioinformatics roadmap for therapy selection in cancer genomics.癌症基因组学治疗选择的生物信息学路线图。
Mol Oncol. 2022 Nov;16(21):3881-3908. doi: 10.1002/1878-0261.13286. Epub 2022 Aug 20.
10
A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.使用基因累积贡献丰度探索突变特征与基因之间关联的实用框架 RNMF。
Cancer Med. 2022 Nov;11(21):4053-4069. doi: 10.1002/cam4.4717. Epub 2022 May 16.

本文引用的文献

1
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.HRDetect是一种基于突变特征的BRCA1和BRCA2缺陷预测指标。
Nat Med. 2017 Apr;23(4):517-525. doi: 10.1038/nm.4292. Epub 2017 Mar 13.
2
Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine.日本结直肠癌的基因组图谱:精准医学中全面基因组测序的临床意义
Genome Med. 2016 Dec 22;8(1):136. doi: 10.1186/s13073-016-0387-8.
3
Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.人表皮生长因子受体2(HER2)阳性炎性乳腺癌中HER2阻断期间的克隆进化分析:阿法替尼±长春瑞滨的II期开放标签临床试验
PLoS Med. 2016 Dec 6;13(12):e1002136. doi: 10.1371/journal.pmed.1002136. eCollection 2016 Dec.
4
Mutational signatures associated with tobacco smoking in human cancer.人类癌症中与吸烟相关的突变特征。
Science. 2016 Nov 4;354(6312):618-622. doi: 10.1126/science.aag0299.
5
Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma.食管鳞状细胞癌的肿瘤内空间异质性和时间克隆进化
Nat Genet. 2016 Dec;48(12):1500-1507. doi: 10.1038/ng.3683. Epub 2016 Oct 17.
6
Tissue-specific mutation accumulation in human adult stem cells during life.人类成体干细胞在生命过程中的组织特异性突变积累。
Nature. 2016 Oct 13;538(7624):260-264. doi: 10.1038/nature19768. Epub 2016 Oct 3.
7
A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds.一个保留肿瘤内异质性以筛选抗癌化合物的乳腺癌外植体生物样本库。
Cell. 2016 Sep 22;167(1):260-274.e22. doi: 10.1016/j.cell.2016.08.041. Epub 2016 Sep 15.
8
DNA replication stress mediates APOBEC3 family mutagenesis in breast cancer.DNA复制应激介导乳腺癌中的载脂蛋白B编辑酶催化多肽样3(APOBEC3)家族诱变。
Genome Biol. 2016 Sep 15;17(1):185. doi: 10.1186/s13059-016-1042-9.
9
Mutational signatures of ionizing radiation in second malignancies.二次恶性肿瘤中电离辐射的突变特征。
Nat Commun. 2016 Sep 12;7:12605. doi: 10.1038/ncomms12605.
10
Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance.食管腺癌中的突变特征定义了具有治疗相关性的病因学上不同的亚组。
Nat Genet. 2016 Oct;48(10):1131-41. doi: 10.1038/ng.3659. Epub 2016 Sep 5.

癌症中突变特征发现的计算方法。

Computational approaches for discovery of mutational signatures in cancer.

机构信息

Transmissible Cancer Group, University of Cambridge.

出版信息

Brief Bioinform. 2019 Jan 18;20(1):77-88. doi: 10.1093/bib/bbx082.

DOI:10.1093/bib/bbx082
PMID:28968631
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6357558/
Abstract

The accumulation of somatic mutations in a genome is the result of the activity of one or more mutagenic processes, each of which leaves its own imprint. The study of these DNA fingerprints, termed mutational signatures, holds important potential for furthering our understanding of the causes and evolution of cancer, and can provide insights of relevance for cancer prevention and treatment. In this review, we focus our attention on the mathematical models and computational techniques that have driven recent advances in the field.

摘要

基因组中体细胞突变的积累是一个或多个诱变过程活动的结果,每个过程都会留下自己的印记。研究这些被称为突变特征的 DNA 指纹,对于深入了解癌症的病因和进化具有重要的潜力,并为癌症的预防和治疗提供相关的见解。在这篇综述中,我们将注意力集中在推动该领域最近进展的数学模型和计算技术上。