RESUMO
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.
Assuntos
Bases de Dados Genéticas , Genômica , Neoplasias , Humanos , Bases de Dados Factuais , Bases de Conhecimento , Mutação , Neoplasias/genética , Bases de Dados Genéticas/tendências , InternetRESUMO
The literature about genomics and bioinformatics achievements in high-impact journals such as Nature and Science has raised disproportionate expectations amongst the general public about fast and revolutionary drugs and breakthroughs in biomedicine. However, the yield obtained by database mining activities has been modest, as reported in the February 2001 issues of these journals featuring the completion of human genome draft sequences by the Human Genome Project Consortium and the company Celera. I have compared changes in rethoric employed by molecular biologists in 2001 and in April 2003, when the final sequence was announced. The comparison suggests that researchers are concerned about the sustainability of societys investment in this field, though not explicitly.