The PRIMED Consortium brings together over 75 new and existing studies and consortia with a broad range of phenotypes, molecular data types, and ancestral diversity. Consortium-generated data will be made available to the scientific community via the AnVIL platform.
Participant Diversity
Over 40 countries are represented among study participants whose data will be used by the PRIMED Consortium to improve polygenic risk score development and use in diverse genetic ancestry populations.
Molecular Data
The PRIMED Consortium utilizes molecular data generated via numerous technologies:
- Exome and Genome Sequencing
- Genotyping Array
- Genome-wide Imputation
- Genomic Summary Results
The Genotype Harmonization Working Group leads the effort to harmonize, standardize, and perform quality control of this data. All individual-level genotype data is available as VCFs in genome build GRCh38.
Phenotype Data
The PRIMED Consortium analyzes phenotypes across many domains. Current priority phenotype domains and traits are:
|
Domain |
Phenotypes |
|---|---|
|
Anthropometry |
Height, Weight, BMI |
|
Blood Pressure |
Systolic BP, Diastolic BP |
|
Cancer |
Breast cancer, Prostate cancer |
|
Cardiovascular Disease Events |
Coronary artery disease (CAD) |
|
Diabetes |
Type 1 diabetes, Type 2 diabetes |
|
Glycemic Traits |
Fasting plasma glucose, Fasting serum glucose, Fasting insulin, HbA1c |
|
Kidney function |
Cystatin C, Serum creatinine |
|
Hematology |
RBC, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW, WBC, MPV, Basophil count, Eosinophil count, Lymphocyte count, Monocyte count, Neutrophil count, Platelet count |
|
Lipids |
HDL, LDL, Total cholesterol, Triglycerides, non-HDL cholesterol |
The Phenotype Harmonization Working Group leads the effort to inventory, harmonize, standardize, and perform quality control of this data.