Table 1

Comparison of Biobanks and Phenotypes Across the eMERGE sites


Biobank design

Biobank size and demographics

Phenotypic outcomes



20,000; 98% Caucasian, mean age 48, range 18-102

Low HDL cholesterol, cataract (n = 3968) Secondary: diabetic retinopathy

Mayo Clinic

PAD cases identified from the Mayo non-invasive vascular laboratory database; control subjects without PAD identified from the Cardiovascular Health Clinic

1687 cases (mean age 65) and 1725 controls (mean age 60)

Peripheral arterial disease (PAD) (n = 3412); Secondary: red blood cell indices


Outpatient clinic and hospital-based

Approximately 10,000; 12% African American, 8% Hispanic; Mean age 50, range 18 - 90+

Primary: type II diabetes (n = 3531); Secondary: lipids and height

Group Health

ACT Study Cohort of aged 65 and olderrandomly sampled from an HMO all known not to be demented at enrollment and followed for development of dementia, and Alzheimer's Disease (source of cases and controls) ADPR: Alzheimer's disease cases from a model incidence case registry (source of cases)

Approximately 4000 persons over age 65 from ACT Study

Alzheimer Disease (n = 3390), carotid artery stenosis; Secondary: statin adverse events


Use of discarded blood/non-human subjects linked to electronic medical records

Approximately 75,000; 70% Caucasian, 10% African American; mean age 53, range 18-100

Electrocardiographic QRS duration (n = 3192); Secondary: PheWAS

McCarty et al. BMC Medical Genomics 2011 4:13   doi:10.1186/1755-8794-4-13

Open Data