ClinPGx Blog (Page 19)

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Curator's Favorite Papers

Genetics has been shown to have a profound effect on response to treatment in patients with major depressive disorder (MDD) and may account for as much as 42% of the variability in treatment response, according to some studies. In addition, personality traits, as defined by “the Big-Five" (openness, conscientiousness,

PharmVar Launches CYP2D6, CYP2C9 and CYP2C19 Interactive DB

PharmVar has launched its interactive database for CYP2D6, CYP2C9 and CYP2C19. One cool feature is the ability to now easily find the position of each SNP on different reference sequences. The user can now also choose to count from the beginning of a sequence or the ATG start codon. And

PharmGKB FAQs: How do I read a clinical annotation?

Clinical annotations are written to summarize associations between variants and drug response and are based on annotations of published literature. As an example, please refer to this clinical annotation for rs4149056 in the gene SLCO1B1 and the drug simvastatin. Clinical annotations consist of 3 main parts: 1. Genotype/diplotype-based summaries

RIP Stephen Hawking

"However difficult life may seem, there is always something you can do and succeed at. It matters that you don't just give up." - Stephen Hawking Rest in peace.

NIH Requests Input on Draft Strategic Plan for Data Science

The National Institutes of Health (NIH) is drafting a Strategic Plan for Data Science and is requesting feedback from the community. The amount of data in the biomedical field continues to grow exponentially, leading to "Big Data" and the increasing role of data science to process and analyze

Curators' Favorite Papers

The first paper, by A. Ahmed et al. in the journal Clinical Pharmacology and Therapeutics (Benefits of and Barriers to Pharmacogenomics-Guided Treatment for Major Depressive Disorder), discusses pharmacogenetic (PGx) testing in the context of depression. In a pilot study, 1,002 out of 1,013 (99%) subjects had an actionable

PharmGKB featured in Stanford Engineering Magazine

PharmGKB was the focus of Dr. Russ Altman’s talk at the 2018 Beckman Symposium held at Stanford in February and is now featured in the latest issue of the Stanford Engineering magazine. Attendees at the symposium, which focused on technology, innovation and the human genome, were given a guided

CPIC Guideline Update: Carbamazepine, Oxcarbazepine and HLA genotype

The CPIC Guideline for carbamazepine, oxcarbazepine and HLA genotype is now published in Clinical Pharmacology and Therapeutics. The accepted article can be viewed on the PharmGKB pages for carbamazepine and oxcarbazepine and on the CPIC website. Carbamazepine and oxcarbazepine are anticonvulsants which have been approved for treatment for epilepsy and,

Promote the study of Pharmacogenomics in the All of Us cohort

The NIH is collecting suggestions for what to study in a new large cohort of one million or more people living in the United States. The All of Us research program is part of the Precision Medicine Initiative and will recruit volunteers across the USA to share their data with

Curators' Favorite Papers

The first paper (Implementation of Standardized Clinical Processes for TPMT Testing in a Diverse Multidisciplinary Population: Challenges and Lessons Learned) describes the process of implementing systemwide thiopurine methyltransferase (TPMT) testing at the University of Florida Health Personalized Medicine Program (UF PMP). After the successful implementation of CYP2C19 testing for patients