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PCAWG:TCGA泛癌全基因组分析

PCAWG:TCGA泛癌全基因组分析

作者: 笺牒九州的怪咖 | 来源:发表于2022-02-21 17:21 被阅读0次

    介绍

    泛癌分析

    我们都知道在TCGA数据库当中,包括了33种所有实体肿瘤的测序的结果。我们在进行TCGA数据分析的时候,除了可以对单一的癌种进行分析之外。还可以对所有的33种肿瘤进行统一的分析解读,来寻找33种肿瘤当中所存在的共同的特征。这就是我们说到的泛癌分析了。

    关于泛癌分析的计划,从2013年就开始了。那个时候就提到了要对TCGA的所有数据来进行整合的分析。

    The Cancer Genome Atlas Research Network., Weinstein, J., Collisson, E. et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet 45, 1113–1120 (2013). https://doi.org/10.1038/ng.2764

    在2018年的时候,TCGA的相关工作人员在cell旗下的等一系列的高分杂志上发表了27篇相关的相关泛癌分析的文献。当时的那个计划叫做泛癌图谱(Pan-Cancer Atlas)。

    (https://www.genome.gov/Funded-Programs-Projects/Cancer-Genome-Atlas)

    再往后系统的泛癌分析接下来就是到了今年的PCAWG了。

    PCAWG

    泛癌全基因组分析(Pan-Cancer Analysis of Whole Genomes , PCAWG)是TCGA的相关工作人员,利用TCGA数据当中的WGS(全基因组测序)的数据。对所有肿瘤在DNA水平上的统一的分析。而这次的话,在nature旗下的杂志一次性的发表了17篇文章 (下一次的泛癌文章,会不会发到science旗下呢?)。

    [Pan-Cancer Analysis of Whole Genomes (nature.com)] The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature 578, 82–93 (2020). https://doi.org/10.1038/s41586-020-1969-6

    对于这次的PCAWG方面的分析,TCGA的工作人员通过主要是通过结构变异肿瘤进化突变特征癌症驱动基因调控以及相关工具来进行归类的。如果想要了解的可以点击阅读原文来查看所有的相关文献。

    在线分析PCAWG的工具

    为什么突然要介绍介绍PCAWG呢?这个因为最近在NATURE COMMUNICATIONS上发表了一篇介绍使用和可视化PCAWG数据的文献。在这个文献里面介绍了五个可以用来分析PCAWG的在线数据库。利用这五个数据库我们就可以来自己分析PCAWG的数据了。

    Goldman, M.J., Zhang, J., Fonseca, N.A. et al. A user guide for the online exploration and visualization of PCAWG data. Nat Commun 11, 3400 (2020). https://doi.org/10.1038/s41467-020-16785-6

    在这篇文章里面,同时也对这五个数据库的功能进行了一下简单的汇总。通过下面表格的汇总,通过?的表格看出

    • 数据检索方面,ICGC和UCSC XENA可以满足所有的检索方式
    • 数据可视化方面,每个数据库的功能则各有不同。
    • 数据分析方面,PCAWG Scout可以进行所有其他数据库进行的分析
    • 数据下载方面,尤其是最原始的BAM数据的下载ICGC数据库是可以的,别的都不行。

    应用

    在2020年Nature杂志及其子刊上,PCAWG项目组一共发表了22篇文章,涵盖了共计六个方面:

    • 1 Pan-cancer analysis of whole gcnomes (泛癌驱动基因突变)
    • 2 Patterns of somatic structural variation in human canccr genomes ( somatic结构变异)
    • 3 The rcpertoire of mutational signatures in human cancer (突变 signaturc)
    • 4 The evolutionary history of 2,658 cancers (泛癌肿瘤进化)
    • 5 Genomic basis for RNA alterations in cancer ( RNA altcrations)
    • 6 Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (non-coding 区域突变)

    文章分别为:

    • 1.Pan-cancer analysis of whole genomes. 5 FEB 2020,Nature (* DOI: 10.1038/s41586-020-1969-6
    • 2.Patterns of somatic structural variation in human cancer genomes.5 FEB 2020, Nature (DOI: 10.1038/s41586-019-1913-9
    • 3.The repertoire of mutational signatures in human cancer.5 FEB 2020,Nature (DOI: 10.1038/s41586-020-1943-3
    • 4.The evolutionary history of 2,658 cancers. 5 FEB 2020,Nature (DOI: 10.1038/s41586-019-1907-7
    • 5.Genomic basis for RNA alterations in cancer. 5 FEB 2020,Nature (DOI: 10.1038/s41586-020-1970-0
    • 6.Analyses of non-coding somatic drivers in 2,658 cancer whole genomes 5 FEB 2020, Nature (DOI: 10.1038/s41586-020-1970-0
    • 7.Comprehensive molecular characterization of mitochondrial genomes in human cancers. 5FEB 2020,Nature Genetics (DOI: 10.1038/s41588-019-0557-x
    • 8.Disruption of chromatin folding domains by somatic genomic rearrangements inhuman cancer.5 FEB 2020,Nature Genetics (DOI: 10.1038/s41588-019-0564-y
    • 9.Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1retrotransposition. 5 FEB 2020, Nature Genetics (DOI: 10.1038/s41588-019-0562-0
    • 10.The landscape of viral associations in human cancers.5 FEB 2020, Nature Genetics (DOI: 10.1038/s41588-019-0558-9
    • 11.Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genomesequencing. 5 FEB 2020,Nature Genetics (DOI: 10.1038/s41588-019-0576-7
    • 12.Butler enables rapid cloud-based analysis of thousands of human genomes.5 FEB 2020,Nature Biotechnology (DOI: 10.1038/s41587-019-0360-3
    • 13.Cancer LncRNA Census reveals evidence for deep functional conservation of longnoncoding RNAs in tumorigenesis. 5 FEB 2020, Communications Biology (DOI: 10.1038/s42003-019-0741-7
    • 14.Integrative pathway enrichment analysis of multivariate omics data. 5 FEB 2020,NatureCommunications (DOI: 10.1038/s41467-019-13983-9
    • 15.Pathway and network analysis of more than 2500 whole cancer genomes.5 FEB 2020,Nature Communications (DOI: 10.1038/s41467-020-14367-0
    • 16.A deep learning system accurately classifies primary and metastatic cancers usingpassenger mutation patterns.5 FEB 2020,Nature Communications (DOI: 10.1038/s41467-019-13825-8
    • 17.High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genesderegulated by rearrangement-mediated cis-regulatory alterations.Nature communications vol. 11,1 736. 5 Feb. 2020 (DOI: 10.1038/s41467-019-13885-w
      )
    • 18.Genomic footprints of activated telomere maintenance mechanisms in cancer. 5 FEB 2020,Nature Communications (DOI: 10.1038/s41467-019-13824-9
      )
    • 19.Combined burden and functional impact tests for cancer driver discovery using DriverPower. 5 FEB 2020,Nature Communications ( DOI: https://doi.org/10.1038/s41467-019-13929-1 )
    • 20.Inferring structural variant cancer cell fraction. 5 FEB 2020, Nature Communications (DOI: 10.1038/s41467-020-14351-8
      )
    • 21.Divergent mutational processes distinguish hypoxic and normoxic tumours. 5 FEB 2020.Nature Communications (DOI: 10.1038/s41467-019-14052-x
      )
    • 22.Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. 5 FEB 2020,Nature Communications (DOI: 10.1038/s41467-020-14352-7
      )

    感兴趣的科研宝子自行下载研读吧!

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