All notable changes to this project will be documented in this file.
During weekly meetings there were needs expressed for new fields or options. These requested were gather and were updated in new datamodel. Version 1 was Draft model, without any input from Solve-RD project.
All ontolology codelist were filled:
- anatomicalLocation: SNOMED CT
- Disease: ICD-10 codes and ORDO codes
- materialType: MIABIS code list
- phenotype: HPO code list
- sex: MIABIS code list
- GenomeBuild: UCSC options
New Entities were added:
- GenomeBuild
- Filetype
- ClinicalClassification
- VariantTypes
- SequencingTechniqueType
Per Entity attributes that are added:
| Entity | Attribute |
|---|---|
| Dataset | remarks |
| Dataset | typedataset |
| File | EGA Accession Number |
| File | Flag Abnormal File |
| Sample | EGA Accession Number |
| Sample | ERN |
| Sample | Flag Abnormal |
| Sample | Claimed sex |
| Sample | Observed sex |
| Subject | EGA Accession Number |
| Subject | ERN |
| Sample | FamilyID |
| Sample | Paternal ID |
| Sample | Maternal ID |
| Sample | Solved |
| Sample | Remarks |
| SubjectInfo | Date of birth |
| SubjectInfo | ageOfOnset |
| SubjectInfo | ageOfDiagnosis |
| Variant | genomeBuild |
| VariantInfo | Description |
Per Entity attributes that are removed:
| Entity | Attribute | Reason |
|---|---|---|
| Library | libraryStrategyId | sequencing technique already in Labinfo; seqType |
| Library | librarySourceId | type of source material already in Sample: materialType |
| disease inheritance | all | for now not specified |
| Job | Date | lready start and stop date present |
| relation | all | Not needed FID/MID/PID added |
| SubjectInfo | comments | already present in Subject |
| Entity | Attribute | What? |
|---|---|---|
| Labinfo | seqType | extra options added, for non-Illumina sequencers and SR 35-bp, or PE 150-bp |
| Labinfo | caputure kit | name changed to enrichment kit |
| sex | label | option added UD; undifferentiated, the gender could not be uniquely identified such as hermaphrodite |
| VariantInfo | name | attribute name variantInfo changed to Classification Variant (specificly linked to subject, variant is technical information on variant) |