DoCM, the Database of Curated Mutations, is a highly curated database of known, disease-causing mutations that provides easily explorable variant lists with direct links to source citations for easy verification.
Curation of the literature to produce a high quality set of pathogenic somatic mutations is not trival. Sifting through the ever growing body of cancer research literature (6% annual growth rate in the last 10 years), with about 160,000 articles related to cancer indexed by PubMed in 2015. This volume of literature makes it difficult to identify bona fide somatic mutations with characterized functional or clinical significance in cancer. Once identified, these mutations require significant curation efforts to format and standardize the mutations in a consistent way that enables databasing. For example, publications often only specify the amino acid change and gene name to describe the mutation. DoCM addresses these challenges by acting as an accessible, open-source, and openly licensed repository that aggregates somatic mutations from other curated resources and the literature through community contributions.
Version Number | Variant Count | Disease Count |
---|---|---|
1 | 386 | 49 |
2 | 708 | 64 |
2.1 | 750 | 76 |
2.2 | 753 | 78 |
3 | 1340 | 114 |
3.1 | 1361 | 119 |
3.2 | 1364 | 122 |
DoCM Feature | Type | Count |
---|---|---|
Variant Types | SNV | 1302 |
DNV | 27 | |
DEL | 27 | |
INS | 8 | |
Variant Effects | missense | 1276 |
stop_lost | 45 | |
frameshift | 18 | |
inframe | 15 | |
start_lost | 5 | |
synonymous | 4 | |
protein_altering_variant | 1 | |
Cancer Subtypes | 122 | |
Genes | 132 | |
Transcripts | 184 | |
Publications | 876 |
A correspondence describing DoCM has been published in Nature Methods: DoCM: a database of curated mutations in cancer. Nature Methods (2016) doi:10.1038/nmeth.4000.
DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.
DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.