What’s new in the DF10 endpoints

There were no systemic changes in Data Freeze (DF) 10's endpoints, only minor updates. Altogether 2459 new endpoints reached the minimum of 50 cases, making them eligible for the core analysis team GWAS runs.

DF10 legacy samples

New DF10 legacy samples, genotyped with the FinnGen array, were delivered from the following cohorts and biobanks:

• ~2700 Finnish Health in Teens study subjects (Fin-HIT, THL BB)

• ~2350 male smokers (ATBC/SETTI study, THL BB)

• ~440 back surgery patients from the Nordic Modic project (Nomod study, Eastern Finland BB)

• ~950 normal pressure hydrocephalus patients, their relatives, and controls (Eastern Finland BB)

• ~705 neurological disease patients, including Alzheimer disease patients (L-MCI study, Eastern Finland BB)

• ~400 Kuopio Breast Cancer Project patients (KBCP, Eastern Finland BB)

• ~170 migraine family patients (Migraine study, THL)

• ~70 idiopathic intracranial hypertension patients (IIH cohort, Eastern Finland BB)

• ~50 acute head injury patients (S100B biomarker study, Eastern Finland BB)

New DF10 legacy genotypes

New DF10 legacy genotypes, genotyped with various Illumina arrays, were delivered from the following cohorts and biobanks:

• ~4800 North Finland Birth Cohort study subjects born in 1966 (NFBC 1966, Arctic BB)

• ~3500 North Finland Birth Cohort study subjects born in 1986 (NFBC 1986, Arctic BB)

All changes in the endpoints are additionally described in the changelog file here.

Deleted endpoints

50 endpoints were deleted:

• 18 deleted for renaming purposes; removed _INCLAVO from short name

• 11 deleted due to other renaming purposes

• 14 redundant endpoints deleted

• 5 placeholder, 1 helper, and 1 too-broadly defined endpoint deleted.

• In addition, comorbidity and diabetes complication endpoints have now omit=2 (these endpoints won’t be released to Sandbox, Pheweb or Risteys)

New endpoints

32 new endpoints were added:

• 2 new core endpoints

  • G6_RLS

  • AB1_LYME

• 1 new non-core endpoint

  • K11_K03_COMBINATION

• 29 new endpoints because of renaming

  • 18 _INCLAVO endings removed from the endpoints' short names

  • 11 endpoints renamed because of spelling errors or illogical naming.

Modified endpoints

81 endpoints were modified:

• 38 had an #AVO tag added

• 9 had an #ICDMAIN tag added

• 7 “special” columns were cleared as markings have become outdated

• 5 endpoints' long names or included names were changed

• 21 endpoint definitions were improved

• CD2_NONHODGKIN_NAS had its control definition corrected.

See the changelog for more details.