COSMIC: a curated database of somatic variants and clinical data for cancer

作者：Zbysław Sońdka, Nidhi Bindal Dhir, Denise Carvalho‐Silva, S Jupe, Madhumita Madhumita, Karen McLaren, Mike Starkey, Sari A. Ward, Jennifer L. Wilding, Madiha Ahmed, Joanna Argasinska, David M. Beare, Manpreet Singh Chawla, Stephen Oscar Duke, Ilaria Fasanella, Avirup Guha Neogi, Susan Haller, Balázs Hetényi, Leonie Hodges, Alexander J. Holmes, Rachel Lyne, Thomas Maurel, Sumodh Nair, Helder Pedro, Amaia Sangrador‐Vegas, Helen Schuilenburg, Zoe Sheard, Siew Yit Yong, Jon W. Teague · 发表于：Nucleic Acids Research · 年份：2023 · DOI：10.1093/nar/gkad986 · 被引用次数：562 · 研究领域：Cancer Genomics and Diagnostics、Genetic factors in colorectal cancer、Genomics and Rare Diseases

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.