# What’s new in DF12 endpoints

There were no systemic changes in Data Freeze (DF) 12 endpoints, only minor updates.

### DF12 legacy samples

New DF12 biobanked research study cohort samples, genotyped with the FinnGen array, were delivered from the following cohorts and biobanks:

* \~7900 The Finland-United States Investigation of NIDDM Genetics ([FUSION](https://thl.fi/en/web/thl-biobank/for-researchers/sample-collections/fusion-study)) study subjects from THL BB
* \~2200 Study subjects from asthma/COPD-cohort from Helsinki BB
* \~570 Finnish Health in Teens ([Fin-Hit](https://thl.fi/en/web/thl-biobank/for-researchers/sample-collections/fin-hit-study)) study subjects from THL BB
* \~70[ Migraine](https://thl.fi/en/web/thl-biobank/for-researchers/sample-collections/migraine-study) study subjects (THL BB)

### New DF12 legacy genotypes

New legacy samples with previously generated genotypes from non-FinnGen arrays were received for DF12

* \~ 300 Finnish Health in Teens study subjects ([Fin-Hit](https://thl.fi/en/web/thl-biobank/for-researchers/sample-collections/fin-hit-study), THL BB)

### Deleted endpoints

**Endpoints removed based on being redundant to other endpoints:**

SMOKING

C\_FOLLICULAR\_LYMPHOMA

C\_HODGKIN\_LYMPHOMA

C\_LYMPHOMA

C\_NONFOLLICULAR\_LYMPHOMA

C\_NONHODGKIN\_NAS

C\_OTHER\_SPECIAL\_TNK\_LYMPHOMA

C\_TNK\_LYMPHOMA

**DM1 and 2 complication endpoint deleted. Only the following DM complication endpoints exist in the DF12:**

DM2\_NEPHROPATHY

DM2\_RETINOPATHY

DM2\_NEUROPATHY

DM1\_NEPHROPATHY

DM1\_RETINOPATHY

DM1\_NEUROPATHY

**Deleted because of renaming:**

AB1\_GHLAMY\_OTHER - for renaming purpose

### New endpoints

**New rare congenital disease endpoints:**

E4\_FABRY\_KIDNEY

Q17\_MARFAN

Q17\_NEUROFIBROMATOSIS\_2

Q17\_NEUROFIBROMATOSIS\_1

Q17\_PEUTZ\_JEGHERS

Q17\_TUBEROUS\_SCLEROSIS

Q17\_VON\_HIPPEL

C3\_WILMS\_TUMOR\_EXALLC

Q17\_HIRSPRUNG

Q17\_ALPORT

E4\_APECED

Q17\_DIASTROFIC\_DYSP

D3\_ANGIOEDEMA\_1

D3\_ANGIOEDEMA\_2

D3\_ANGIOEDEMA\_3

Q17\_BICUSP\_AORTIC\_VALVE

Q17\_MASTOCYTOSIS

Q17\_NOONAN

Q17\_OSTEOGEN\_IMPERFECTA

**New hematological disease endpoints:**

C3\_MYELOMA\_MONOCLONAL

C3\_CIRCULATING\_LYMPHOID

C3\_AML\_MDS

**Other:**

DM\_RETINOPATHY\_STRICT

G6\_NEURODEGENERATIVE

M13\_EARLY\_LUMBAR\_PROLAPSE\_OPER

M13\_LUMBAR\_PROLAPSE

### Modified endpoints

**Cancer endpoints**

In DF12 we have added Hilmo based ICD codes to EXALLC cancer endpoints. In previous DFs these cancer endpoints were based on only the diagnoses from the Finnish Cancer Registry\_.\_ Case definitions without EXALLC in the name have the original definition without the Hilmo based ICD codes. Previously EXALLC cancer endpoints were defined by control file, but now EXALLC endpoints are listed also in the case definition file.

**Diabetic complication endpoints:**

DM\_NEPHROPATHY

DM\_RETINOPATHY

DM\_NEUROPATHY

Control definitions changed so that patients with diabetic complication are compared to diabetics without the complication

See endpoint [changelog](https://www.finngen.fi/en/researchers/clinical-endpoints) for more details.


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