Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

(2016) WS Bush et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Effects of CYP2C19 variants on methadone metabolism in vitro

(2016) Tian Lan et al.   Drug Testing and Analysis

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Preemptive Pharmacogenomic Testing for Precision Medicine

(2016) Yuan Ji et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers

(2015) Henry M. Dunnenberger et al.   Annual Review of Pharmacology and Toxicology

Genetic variation in the human cytochrome P450 supergene family

(2015) Kohei Fujikura et al.   Pharmacogenetics and Genomics

PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics

(2014) James M. Hoffman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Performance comparison of four exome capture systems for deep sequencing

(2014) Chandra Sekhar Chilamakuri et al.   BMC GENOMICS

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems

(2014) L J Rasmussen-Torvik et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Guidance for pharmacogenomic biomarker testing in labels of FDA-approved drugs

(2014) Alexandre Vivot et al.   GENETICS IN MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes

(2014) Jung-Ki Yoon et al.   NUCLEIC ACIDS RESEARCH

Personalized pharmacogenomics profiling using whole-genome sequencing

(2014) Clint Mizzi et al.   PHARMACOGENOMICS

Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing

(2013) SL Van Driest et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

(2013) A. S. Gordon et al.   HUMAN MOLECULAR GENETICS

CYP2R1 is a major, but not exclusive, contributor to 25-hydroxyvitamin D production in vivo

(2013) J. G. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex target capture with double-stranded DNA probes

(2013) Peidong Shen et al.   Genome Medicine

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Evaluation of the Effects of 20 Nonsynonymous Single Nucleotide Polymorphisms of CYP2C19 on S-Mephenytoin 4'-Hydroxylation and Omeprazole 5'-Hydroxylation

(2011) H. Wang et al.   DRUG METABOLISM AND DISPOSITION

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition

(2011) L. B. Ramsey et al.   GENOME RESEARCH

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

A comparative analysis of exome capture

(2011) Jennifer S Parla et al.   GENOME BIOLOGY

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genome-wide association studies in pharmacogenomics

(2010) Ann K. Daly   NATURE REVIEWS GENETICS

Genome-wide association studies in pharmacogenomics

(2010) Alison A. Motsinger-Reif et al.   Pharmacogenetics and Genomics

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Arginines in the First Transmembrane Segment Promote Maturation of a P-glycoprotein Processing Mutant by Hydrogen Bond Interactions with Tyrosines in Transmembrane Segment 11

(2008) Tip W. Loo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE