List all: genes, pathways, drugs

Sequence and Phenotype Integration Exchange (SPHINX) is a web-based tool for exploring data for hypothesis generation, especially around drug response implications of genetic variation across the eMERGE PGx cohort.
9 sites
38,112 variants
9,015 unique samples - cohort complete

Last update: July 2015

The eMERGE-PGx project is a multi-center pilot of pharmacogenetic sequencing in clinical practice in order to survey the concept that sequence information can be coupled with electronic medical records (EMRs) for use in healthcare. Once fully enrolled, eMERGE PGx cohort will contain nearly 9000 subjects and SPHINX will contain the associated data for these subjects. SPHINX is a catalog of inherited variants from a targeted megabase of sequence in a small number of PGx genes (82) over a large enough population that rare variants are extant with minor allele frequencies. Basic functional variant categories and ethnic-specific allele frequencies are available with links to PharmGKB for known variants.


The sites participating in eMERGE and the eMERGE-PGx project include:

  • Children's Hospital of Pennsylvania
  • Cincinnati Children's Medical Center with Boston Children's Hospital
  • Essentia Rural Health with Marshfield Clinic and The Pennsylvania State University
  • Geisinger Health System
  • Group Health Cooperative with University of Washington
  • Mayo Clinic
  • Mount Sinai School of Medicine
  • Northwestern University
  • Vanderbilt University