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Data Overview

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.

Map of Earth with country boundaries marked. Blue shading indicates countries from which participants were recruited across studies, cohorts, and consortia with datasets proposed for use by PRIMED Study Sites.
Blue shading indicates countries from which participants were recruited across studies, cohorts, and consortia with datasets proposed for use by PRIMED Study Sites.

 

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.