Publications


Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
J Am Med Inform Assoc 2016 Jul 28;23(4):796-801. Epub 2016 Mar 28.
Departments of Medicine and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
PLoS Genet 2015 Oct 8;11(10):e1005496. Epub 2015 Oct 8.
Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America.

Clinical interpretation and implications of whole-genome sequencing.
JAMA 2014 Mar;311(10):1035-45
Stanford Center for Inherited Cardiovascular Disease, Stanford, California2Stanford Cardiovascular Institute, Stanford, California3Division of Cardiovascular Medicine, Stanford University, Stanford, California4Stanford Center for Genomics and Personalized.


The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation.
Clin Pharmacol Ther 2013 Aug 19;94(2):207-10. Epub 2013 Mar 19.
Program in Personalized and Genomic Medicine and Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.



The BioPAX community standard for pathway data sharing.
Nat Biotechnol 2010 Sep 9;28(9):935-42. Epub 2010 Sep 9.
Computational Biology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.

PharmGKB summary: ivacaftor pathway, pharmacokinetics/pharmacodynamics.
Pharmacogenet Genomics 2017 01;27(1):39-42
Departments of aGenetics bBioengineering, Stanford University, Stanford, California cDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio, USA dGenomics England, Queen Mary University of London, London, UK.

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