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: