| | 39 | |
| | 40 | == Mutation databases |
| | 41 | |
| | 42 | Mission: relate patients/phenotypes to mutations |
| | 43 | |
| | 44 | Scope: |
| | 45 | * patients (and their phenotypes) |
| | 46 | * mutations (dominant/recessive) |
| | 47 | * publications about above |
| | 48 | |
| | 49 | Stories: |
| | 50 | * for mutations see know/predicted pathogenicity |
| | 51 | * for recessive mutations see known pairs of disease causing mutations |
| | 52 | * for patients see phenotypes, mutations |
| | 53 | * for each record show link to publication/source that has the evidence |
| | 54 | |
| | 55 | Modules |
| | 56 | * EMX upload format (we aim for a standard template) |
| | 57 | * data explorer for patients + mutation (in case of recessive: 2 mutations) + phenotypes |
| | 58 | * data explorer for mutations + related second mutation + concluded pathogenicity (in case of recessive mutation I need to browse by first and second mutation, see col7a1) |
| | 59 | * genome browser with gene, domains, introns/exons, mutations |
| | 60 | * pages for news, background, etc |
| | 61 | |
| | 62 | N.B. this app would be greatly helped by 'nested' data elements to display patient <- mutations relationship |
