International 100K Cohort Consortium (IHCC)

International 100K Cohort Consortium (IHCC)

Linking cohorts, understanding biology, improving health

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International 100K Cohort
Consortium (IHCC)

Team B: Scientific Strategy and Cohort Enhancements

Charge / Overview

Develop a scientific agenda to identify novel approaches to diagnose and treat genomic conditions, explore enhancements to existing cohorts, and address diversity gaps

Core Initiatives

  1. Improve the diagnosis, prognosis and treatment of complex diseases, both common and rare
  2. Identify high-risk individuals through the following methods:
    • 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
  3. Improve understanding of variability in response to treatments and identify novel pharmacogenetic (PGx) associations
  4. Design a strategy for genomic enhancement to cohorts that allows countries/regions that have large cohorts with environmental data samples but limited resources for sequencing to generate genomic information
    • 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 (LMIC):
  5. Explore enhancements to existing cohorts/datasets:
    • 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
  6. Create an integrated ‘omics workspace to allow for integrative omics analyses

Team Leads

Members

JP Romero Casas
Rory Collins
John Connolly
John Danesh
Arash Etemadi
Neal Freedman
Susan Gapstur
Kelly Gebo
Eric Green
Jeremy Grushcow
Aroon Hingorani
Kristian Hveem
Farin Kamangar
Rachel Liao
Paulo Lotufo
Chris Lunt
Martin McNamara
Beatrice Melin
Usha Menon
Alexandre Pereira
Erica Pufall
Gabriella Repetto
Dan Roden
Cathy Schaefer
Alan Shuldiner
Cathie Sudlow
Richard Trembath