Querying the catalogue
The catalogue can be queried at different linked levels.
"Diagnosis list" details the list of the pathologies with respective MIM, Orphanet and ICD-10 numbers as well as the availability of the stored samples.
By selecting a specific disease from the "Diagnosis list", access is enabled to the second level, "Sample list", where the availability of all samples for that specific disease is detailed.
The selection of a specific sample activates the third level, "Sample characteristics page", where further details concerning that sample are available.
Alternatively, the catalogue can also be queried by configuring a query for some samples’ attributes such as type of sample, gender, phenotype, type of diagnosis.
- Unique number assigned to each specimen in the Biobank
- No. of samples
- Total number of samples available
- MIM number
- Number assigned to a disease in the standard reference Online Mendelian Inheritance in Man
- ORPHA number
- Number assigned to a disease by Orpha.net (the portal for rare diseases and orphan drugs)
- ICD-10 code
- Number assigned to a disease in the standard reference International Classification of Diseases
- Sample type
- Type of sample available, e.g., lymphoblast, fibroblast
- Clinical Phenotype
- Affected - apparently non-affected
- Type of diagnosis
- Type of diagnosis available
- Extraction Year
- Year in which the biospecimen was collected
- Molecular analysis
- Available / Not available. TNGB policy is not to publish genotypes which are provided upon request to researchers who are willing to submit a sample request