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癌症基因:癌症基因组计划的基因选择资源。

CancerGenes: a gene selection resource for cancer genome projects.

作者信息

Higgins Maureen E, Claremont Martine, Major John E, Sander Chris, Lash Alex E

机构信息

Computational Biology Center Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, No. 460 New York, NY 10021, USA.

出版信息

Nucleic Acids Res. 2007 Jan;35(Database issue):D721-6. doi: 10.1093/nar/gkl811. Epub 2006 Nov 6.

Abstract

The genome sequence framework provided by the human genome project allows us to precisely map human genetic variations in order to study their association with disease and their direct effects on gene function. Since the description of tumor suppressor genes and oncogenes several decades ago, both germ-line variations and somatic mutations have been established to be important in cancer-in terms of risk, oncogenesis, prognosis and response to therapy. The Cancer Genome Atlas initiative proposed by the NIH is poised to elucidate the contribution of somatic mutations to cancer development and progression through the re-sequencing of a substantial fraction of the total collection of human genes-in hundreds of individual tumors and spanning several tumor types. We have developed the CancerGenes resource to simplify the process of gene selection and prioritization in large collaborative projects. CancerGenes combines gene lists annotated by experts with information from key public databases. Each gene is annotated with gene name(s), functional description, organism, chromosome number, location, Entrez Gene ID, GO terms, InterPro descriptions, gene structure, protein length, transcript count, and experimentally determined transcript control regions, as well as links to Entrez Gene, COSMIC, and iHOP gene pages and the UCSC and Ensembl genome browsers. The user-friendly interface provides for searching, sorting and intersection of gene lists. Users may view tabulated results through a web browser or may dynamically download them as a spreadsheet table. CancerGenes is available at http://cbio.mskcc.org/cancergenes.

摘要

人类基因组计划提供的基因组序列框架使我们能够精确绘制人类基因变异图谱,以便研究它们与疾病的关联以及它们对基因功能的直接影响。自几十年前肿瘤抑制基因和癌基因被描述以来,种系变异和体细胞突变在癌症中就已被证实具有重要意义,涉及风险、肿瘤发生、预后及对治疗的反应等方面。美国国立卫生研究院(NIH)发起的癌症基因组图谱计划,旨在通过对数百个个体肿瘤中大量人类基因集合的重测序,涵盖多种肿瘤类型,来阐明体细胞突变对癌症发展和进展的作用。我们开发了CancerGenes资源,以简化大型合作项目中基因选择和优先级排序的过程。CancerGenes将专家注释的基因列表与来自关键公共数据库的信息相结合。每个基因都用基因名称、功能描述、生物、染色体编号、位置、Entrez基因ID、基因本体(GO)术语、InterPro描述、基因结构、蛋白质长度、转录本计数、实验确定的转录本调控区域进行注释,以及提供指向Entrez基因、COSMIC和iHOP基因页面以及UCSC和Ensembl基因组浏览器的链接。用户友好的界面支持基因列表的搜索、排序和交集操作。用户可以通过网络浏览器查看表格结果,也可以将其动态下载为电子表格。CancerGenes可在http://cbio.mskcc.org/cancergenes获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08cf/1781153/54cfcb248175/gkl811f1.jpg

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