Scientific Strategy and Cohorts Enhancement

Stimulating research that builds upon rich and diverse datasets from around the world to advance disease understanding and lead to improved global health. Supporting projects to enhance the scientific understanding of the biological, environmental, and genetic bases of disease and facilitating research to improve clinical care and population health. Promoting inclusivity of scientific expertise and diversity in cohort populations and data.


Core Initiatives

  • Genotypic risk scores
  • Homozygous loss of function (LoF) variants
  • Cross-cohort genetic meta-analysis of molecular ‘omics
  • Copy number variation (CNV); phenome-wide association study (PheWAS)
  • Cross-cohort genetic array analysis of uncommon outcomes
  • Identify ultra-rare variants, mitochondria, expression quantitative trait loci (eQTL), epigenetics and apply Mendelian randomization
  • Identify resources needed to turn samples into data.
  • Address the “diversity gap” in genomics and focus on whole genome sequencing (WGS) in low and middle income countries (LMICs).
  • Scope molecular ‘omics platforms for implementation.
  • Examine use of digital health devices (i.e., Fitbits, etc.)
  • Explore utility information based on patient-reported/entered data to fill in phenotypic gaps.


John Connolly, Ph.D.

Working Group Project Manager

Adam Butterworth, Ph.D.

Working Group Lead

Hakon Hakonarson, M.D., Ph.D.

Working Group Lead

Gad Rennert, M.D., Ph.D.

Working Group Lead

Join Us!

The Scientific Strategy and Cohorts Enhancement Working Group members meet on the second Wednesday of each month at 10:00 a.m. EST on Zoom. 

Interested in Joining the Scientific Strategy and Cohorts Enhancement Working Group?

Email us at and we will connect you to the team.