COSMIC: exploring the world's knowledge of somatic mutations in human cancer
作者： Simon A. Forbes , David Beare , Prasad Gunasekaran , Kenric Leung , Nidhi Bindal
DOI: 10.1093/NAR/GKU1075
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摘要: COSMIC, the Catalogue Of Somatic Mutations In Cancer (http://cancer.sanger.ac.uk) is world's largest and most comprehensive resource for exploring impact of somatic mutations in human cancer. Our latest release (v70; Aug 2014) describes 2 002 811 coding point over one million tumor samples across genes. To emphasize depth knowledge on known cancer genes, mutation information curated manually from scientific literature, allowing very precise definitions disease types patient details. Combination almost 20 000 published studies gives substantial resolution how phenotypes relate cancer, providing insights into stratification biomarkers populations. Conversely, our curation genomes (over 12 000) emphasizes breadth, driving discovery unrecognized cancer-driving hotspots molecular targets. high-resolution approach globally unique, giving insight oncology. addition, COSMIC also details more than six noncoding mutations, 10 534 gene fusions, 61 299 genome rearrangements, 695 504 abnormal copy number segments 60 119 787 expression variants. All these are annotated to both each affected gene, then correlated types.
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