POST

SPHINX update

The SPHINX (Sequence, Phenotype, and pHarmacogenomics Integration Exchange) has now been updated based on the most recent genotyping.  There are now 5,639 subjects with available information about the genes sequenced, the number of variants identified per gene, the allele frequency of the variants, as well as the pathway and drug relationships with those 82 pharmacogenes sequenced using the PGRN-Seq platform.

Available to eMERGE Network members and NHGRI program staff, the private side of SPHINX provides exploratory data figures from queries of variant summary data plus phenotype data, including demographics, re-imbursement codes (ICD 9 and CPT), and medications.

In the News

Here's what's happening with eMerge:

01
JUL

Read the full press release here. Congratulations to all the sites in the next round of eMERGE! The new clinical sites will be led by: Iftikhar J. Kullo, M.D., at Mayo Clinic, Rochester, Minnesota Dan M. Roden, M.D., at Vanderbilt University Medical Center, Nashville, Tennessee Elizabeth W. Karlson, M.D., at Brigham and Women’s Hospital, Boston Rex […]

08
MAY

The eMERGE Network is excited to share that the MCS NT304, Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in the eMERGE Network; was published on May 7th to American Journal of Human Genetics.

24
MAR

Two companion RFAs for the PRS Diversity Consortium are now published: Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry – Study Sites (U01 Clinical Trial Not Allowed): https://grants.nih.gov/grants/guide/rfa-files/RFA-HG-20-001.html Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry – Coordinating Center (U01 Clinical Trial Not Allowed): https://grants.nih.gov/grants/guide/rfa-files/RFA-HG-20-002.html The goal […]

27
FEB

Notice to Encourage Eligible NHGRI Awardees to Apply for PA-18-906 “Research Supplements to Promote Diversity in Health-Related Research” https://grants.nih.gov/grants/guide/notice-files/NOT-HG-19-010.html PIs of active NHGRI research grants can apply; identify eligible individuals, including those from underrepresented groups, for support and mentorship under the auspices of this supplement opportunity. Supplement can support individuals from the undergraduate to the […]