Abstract 3213: DIAS, the COSMIC data integration and annotation system

Abstract COSMIC, the catalog of somatic mutations in cancer (https://cancer.sanger.ac.uk/) is the leading and most comprehensive global genetic resource for the exploration of somatic variation across all forms of human cancer. Since the initial inception of COSMIC 15 years ago, cancer genetics have seen substantial changes. Maintaining interoperability between COSMIC and various bioinformatics resources across the globe is a non-trivial task. Resources update at different intervals and as information is interdependent is difficult to keep synchronized. Standardization and adherence to FAIR principles have fueled the development of COSMIC DIAS (Data Integration and Annotation System).For all variants where the genomic location is known, DIAS using the ensembl VEP (Variant Effect Predictor) has ensured the re-annotation of all COSMIC variants, for all available genes and transcripts to a specific ensembl version, independently and for both the GRCh37 and GRCh38 assemblies. From release v90 we have created new stable cosmic genomic identifiers (COSV) for all simple nucleotide variants which point to the corresponding locations on the reference genome. A flip mechanism has been developed that maps the same COSV identifier to both GRCh37 and GRCh38 assemblies, easily searchable from the COSMIC website. The legacy COSM and COSN identifiers have been mapped to the COSV genomic identifiers for backwards compatibility. Additionally, where redundant variants have been identified, these were merged and website redirection has been implemented. Standardized variant annotations have been utilized that adhere to the most recent HGVS recommendations on genomic, transcriptomic and proteomic syntaxes.The cross-references between COSMIC genes and other widely-used databases, such as HGNC, RefSeq, UniProt and CCDS, have been updated and kept up-to-date.Curated cross references between COSMIC phenotypes, NCI terminologies and EFO codes are also available.All the information stored in COSMIC is easily accessible by the website where users are able to explore cancer genomics in high resolution, with the various views available in downloadable formats with a simple click (https://cancer.sanger.ac.uk/cosmic/download).The DIAS system, minimized redundancy of variants, and enhanced the interoperability of COSMIC with other variation resources enabling more precise analysis and easier integration with in-house systems for our users. Citation Format: Charalampos Boutselakis, Chai Kok, Bhavana Harsha, Nidhi Bindal, Shicai Wang, Siew-Yit Yong, Charlotte Cole, Zbyslaw Sondka, Simon Forbes. DIAS, the COSMIC data integration and annotation system [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 3213.