Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Nucleic Acids Res. 2024 Jan 5;52(D1):D1210-D1217. doi: 10.1093/nar/gkad986.
The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer.sanger.ac.uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in cancer, supported by a comprehensive suite of tools for interpreting genomic data, discerning the impact of somatic alterations on disease, and facilitating translational research. The catalogue is accessed and used by thousands of cancer researchers and clinicians daily, allowing them to quickly access information from an immense pool of data curated from over 29 thousand scientific publications and large studies. Within the last 4 years, COSMIC has substantially expanded its utility by adding new resources: the Mutational Signatures catalogue, the Cancer Mutation Census, and Actionability. To improve data accessibility and interoperability, somatic variants have received stable genomic identifiers that are associated with their genomic coordinates in GRCh37 and GRCh38, and new export files with reduced data redundancy have been made available for download.
癌症体细胞突变目录(COSMIC),https://cancer.sanger.ac.uk/cosmic,是一个经过专家精心整理的知识库,提供癌症体细胞变异的数据,同时提供了一套全面的工具,用于解释基因组数据,辨别体细胞改变对疾病的影响,并促进转化研究。该目录每天都被成千上万的癌症研究人员和临床医生访问和使用,使他们能够快速从超过 29000 篇科学出版物和大型研究中整理的数据中获取信息。在过去的 4 年中,COSMIC 通过添加新的资源大大扩展了其用途:突变特征目录、癌症突变普查和可操作性。为了提高数据的可访问性和互操作性,体细胞变异已经获得了稳定的基因组标识符,这些标识符与它们在 GRCh37 和 GRCh38 中的基因组坐标相关联,并且提供了具有较少数据冗余的新导出文件供下载。