Querying the catalogue

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.

Search Fields-Glossary

ID
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