Endpoints

Registries

The disease endpoints were defined using nationwide registries:

• Drug purchase and Drug Reimbursement

• Digital and Population Data Services Agency

• Statistics Finland

• Register of primary health care visits: AVOHILMO

• Care Register for Health Care: HILMO

• Finnish cancer registry

We harmonized over the International Classification of Diseases (ICD) revisions 8, 9 and 10, cancer-specific ICD-O-3, (NOMESCO) procedure codes, Finnish-specific Social Insurance Institute (KELA) drug reimbursement codes and ATC-codes.

These registries spanning decades were electronically linked to the cohort baseline data using the unique national personal identification numbers assigned to all Finnish citizens and residents.

For DF8 the number of endpoints was reduced. This was done for a number of reasons - partly to reduce computational costs and also because nearly redundant endpoints could be confusing. Endpoints were reduced through careful calculation of the case overlaps and consultation with the FinnGen clinical groups.

A full list of FinnGen endpoints is available online for release 8.

Excluded endpoints

The endpoints with fewer than 80 cases, and developmental “helper” endpoints were excluded from the final PheWas (“OMIT” tag in the endpoint definition file).

Risteys

risteys.finngen.fi (Risteys = intersection in Finnish) allows browsing of the FinnGen data at the phenotype level, including endpoint definitions, statistics about number of individuals, gender distribution, and longitudinal relationships.