The All of Us Research Program aims to build one of the largest, most diverse datasets of its kind for health research, with one million or more volunteers nationwide, who will sign up to share their information over time. Researchers will be able to access participants’ de-identified information for a variety of studies to learn more about the biological, behavioral, and environmental factors that influence health and disease. Their findings may lead to more individualized health care approaches in the future.
All of Us is collecting ideas through something called a “use case” that describes a health problem or research question of interest. These ideas will be considered at a Research Priorities Workshop in March 2018 and help the program identify new features to add to support research across a range of health topics.
You may provide input through February 9, 2018, at https://allofusresearchpriorities.ideascale.com/.
The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database published in Clinical Pharmacology & Therapeutics
The Human Cytochrome P450 (CYP) Allele Nomenclature Database, a critical resource for the pharmacogenetics and genomics communities, has transitioned to the Pharmacogene Variation (PharmVar) Consortium. In this update we provide a summary of the current database, provide an overview of the PharmVar consortium, and highlight the PharmVar database which will serve as the new home for pharmacogene nomenclature.
The PGRN Best Trainee Abstract Awards were presented on October 19, 2017 at the Pharmacogenomics Poster Session at the ASHG 2017 Annual Meeting to the following individuals:
We congratulate these winners and all participants for their excellent presentations of cutting-edge pharmacogenomics research.
The American Physiological Society Journal ‘Physiological Genomics’ is has released a new article format developed exclusively for small-scale SNP data to be rapidly peer-reviewed, called PG SNPs. Associations reported may be as few as a single SNP validation study for any complex polygenic trait. Manuscripts submitted under this peer-reviewed Call for Papers are limited to 2 pages and are required to be presented in the template format designed exclusively for PG SNPs. To facilitate the submission process of such manuscripts with a small but definitive dataset, authors will have access to an easy-to-use, pre-existing template to generate the manuscript. For links to the manuscript submission file formats developed specifically for the PG SNPs article type and other details, please visit
PGRN Pharmacogenomics iPSC Library and Service (PiLS), is seeking applications for pilot projects, to utilize gene edited iPSC clones for SNP validation studies for pharmacogenomics research. Three projects will be selected for service at minimal cost to the investigators.
Eligibility: Any current PGRN member in an academic institute can submit a proposal
Application process: Applicants should write a 5 page proposal (A-F).
The deadline for the complete application is December 31, 2017.
Letters of intent are encouraged, to be submitted by November 30, 2017.
Letters of intent and final applications should be sent electronically (as a single pdf file) to Katherine Santostefano, PhD (email@example.com)
The selected applicants are expected to submit progress reports one year after receiving the cell lines.
PharmVar will serve as a central repository for pharmacogene variation to facilitate allele (haplotype) designation and the interpretation of pharmacogenetic test results to guide precision medicine.
PharmVar is a PGRN resource funded by NIGMS.
After September 26, 2017, please visit PharmVar.org to access content of the original P450 Nomenclature Database
We had a good turn out at the last PGRN-Wide Member Call on September 8th. Below are some key highlights from the call:
We will host our second PGRN-wide member call on Friday, September 8, 2017 at 11:00 am Pacific time via Webex (1:00 pm Eastern time). The agenda for the call can be found on the All-Members Calls page.
This call will feature an overview of two new PGRN resources: the Pharmacogenomics iPSC Library and Service (PiLS) by Nao Terada and Pharmacogene Variation Consortium (PharmVar) by Andrea Gaedigk.
We will conclude with an open discussion period during which you can bring up any item of interest.
Not yet a member? Apply for PGRN membership today by clicking here.
We recently celebrated 10 years of genome-wide association (GWA) studies, which have lead to a broad range of discoveries and unprecedented opportunities to identify new therapeutic targets (see review). The number of GWA studies of pharmacogenomics is steadily increasing though still behind studies related to human disease and traits.
The NHGRI-EBI GWAS Catalog (ref), is a great resource, cataloging all published GWA studies and enabling users to search for particular gene, variants and studies of interest and their associated p-values, references and other features. The GWAS Catalog also has an extensive list of summary statistics for various published studies. In addition, users can download list of studies and associated variants and p-values, to perform further types of analyses, such as effect size comparison (ref), number and types of studies (ref, ref), number of variants and traits (ref) and others.
For those who are interested with a list of published GWA studies on pharmacogenomics, here is a list of published GWA studies, extracted from GWAS Catalog (updated July 10th 2017) on pharmacogenomics, related to drug response, adverse events and drug levels. Currently there are over 277 publications on pharmacogenomics GWA studies. Should you know of any PGx study missing here, please contact firstname.lastname@example.org. Please visit PGRN tools page to check out other tools.
The Hub team