eMERGE

eMERGE is a national network organized and funded by the National Human Genome Research Institute (NHGRI) that combines DNA bio-repositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research in support of implementing genomic precision medicine.

Our lab's main interests are in:

  • EMR data mining
  • Development and validation of electronic phenotypes (e-phenotypes) based on EMR
  • Gene mapping by combining e-phenotypes with DNA sequence information
  • Development of electronic clinical decision support tools for return of genetic information
  • Development of “smart” apps for integrative management of complex diseases and genetic disorders

For more information about our Columbia site-specific activities, please visit: http://emerge.cumc.columbia.edu/

Columbia ePhenotypes

We are working on the development and validation of several electronic phenotypes (ePhenotypes) based on electronic medical records (EMR) data. These include:

  • Chronic Kidney Disease
  • Autoimmunity
  • Breast Cancer
  • Cardiomyopathy
  • Cirrhosis
  • Stroke

For more information on the finalized eMERGE phenotypes, please visit PheKB, a knowledgebase for discovering phenotypes from electronic medical records.

Columbia Genetic Projects

We are involved in several network-wide genetic studies. The following projects are led by the Columbia eMERGE co-investigators:

  • Comprehensive genetic association study of kidney traits across the eMERGE network
  • Combined GWAS-PheWAS Approach to Serologic Markers of Autoimmunity & Inflammation
  • Detection of copy number variants and their kidney disease association across the eMERGE network
Back to top