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curators' favorite papers

A collection of 27 issues

Curators' Favorite Papers

The first paper from Genetics in Medicine by Khoury et al. (From Public Health Genomics to Precision Public Health: a 20-Year Journey) reviews developments in the field of public health genomics over the last twenty years. Public health genomics deals with the “effective and responsible translation of genomic research into

Curators' Favorite Papers

The first of two papers selected for the November edition of ”Curators' Favorite Papers" is from Nature Reviews Genetics (“Prioritizing diversity in human genomics research”). It highlights the necessity of including individuals from diverse backgrounds in genomic research, both as subjects and as researchers. The authors discuss several

Curators' Favorite Papers

October’s edition of "Curators' Favorite Papers" features “Introducing personalized health for the family: the experience of a single hospital system”, a discussion about a preemptive pharmacogenomic (PGx) testing program in newborns at a Virginia hospital. The program, called MediMap Baby was initiated in 2014 with with

Curators' Favorite Papers

For this month's edition of "Curators' Favorite Papers" we present two articles discussing how the recommendations from Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines have been used at two different healthcare settings. Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision

Curators' Favorite Papers

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized TrialJason L. Vassy, MD, MPH, SM; Kurt D. Christensen, PhD, MPH; Erica F. Schonman, MPH; Carrie L. Blout, MS, CGC; Jill O. Robinson, MA; Joel B. Krier, MD; Pamela M. Diamond, PhD;

Curators' Favorite Papers

Electronic medical record-integrated pharmacogenomics and related clinical decision support concepts Authors: Caraballo PJ Bielinski SJ St Sauver JL Weinshilboum RM The authors of this article from Clinical Pharmacology and Therapeutics, discuss the challenges to successful integration of pharmacogenetic/pharmacogenomic (PGx) clinical decision support (CDS) tools into electronic health and medical

Constellation: tool for automated CYP2D6 phenotype assignment from WGS

A team from Children’s Mercy and the University of Missouri in Kanas City including Andrea Gaedigk and Greyson Twist published an article about a CYP2D6 phenotype assignment tool in Genomic Medicine (http://www.nature.com/articles/npjgenmed20157). Constellation, a probabilistic scoring system, enables automated ascertainment of CYP2D6 activity scores

Combining large PGx datasets from cancer cell lines

Testing cancer cell lines in vitro for drug sensitivity is a cornerstone of preclinical drug development. Large publically available datasets can be found at The Genomics of Drug Sensitivity in Cancer Project(GDSE) and The Cancer Cell Line Encyclopedia (CCLE). Studies attempting to combine large public datasets and analyzing for

Curators' Favorite Papers

The current Curators' Favorite Papers' highlights the higher frequency of genetic variants conferring increased risk for adverse drug reactions (ADRs) for many commonly used drugs in persons of African descent. Differences in drug response, cure rates and survival outcomes between different ethnic populations exist. To assess this, Aminkeng

Curators' Favorite Papers

The current Curators' Favorite Papers' highlight an article describing a new method in identifying the genetic variation of gene expression using gene sets. To test their novel approach, Abo et al. used KEGG and PharmGKB pathways to define gene sets. In their method, SNPs and mRNA expression were