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 was a multi-center pilot of implementing pharmacogenetic sequencing in clinical practice to improve health care. SPHINX is a searchable catalog of observed inherited variants in a 9015 subject population, large enough to reflect even rare variation. The participants’ constitutional DNA was sequenced using the PGRNseq assay, a targeted megabase of sequence in 82 PGx genes, genes identified as important for pharmcogenomics.

What Can I Do with SPHINX?

See the lists of genes, drugs, and pathways in the catalog

Search the catalog of variants by:

  • Gene
  • Drug interactions (from PharmGKB data)
  • Pathway (from PharmGKB data)

See for each gene:

  • Observed single nucleotide variants
  • Pathways involved
    • Other genes in each pathway
    • Other variants in each pathway
  • Drug interations
    • Other genes with that drug interaction
    • Other variants with that drug interaction

See for each variant:

  • SNPid (where known)
  • Allele frequencies
  • Allele frequencies by EA and AA ancestry
  • Variant category or “Type” (from SNPeff)
  • Link to PharmGKB, where available

Questions?

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

References