Targeted next generation sequencing as a tool for precision medicine

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy

(2018) Matthew P. Goetz et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics

(2018) Ute I. Schwarz et al.   Cold Spring Harbor Perspectives in Medicine

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

(2018) Michael A. Iacocca et al.   CANADIAN JOURNAL OF CARDIOLOGY

Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia

(2017) Michael A. Iacocca et al.   JOURNAL OF LIPID RESEARCH

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

(2017) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Influence of common and rare genetic variation on warfarin dose among African–Americans and European–Americans using the exome array

(2017) Nianjun Liu et al.   PHARMACOGENOMICS

Genetic variation in human drug-related genes

(2017) Charlotta Pauline Irmgard Schärfe et al.   Genome Medicine

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

(2017) Iris Cohn et al.   npj Genomic Medicine

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

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

Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes

(2016) SM Han et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

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

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Rare genetic variants in cellular transporters, metabolic enzymes and nuclear receptors can be important determinants of interindividual differences in drug response

(2016) Mikael Kozyra et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

PGRNseq

(2016) Adam S. Gordon et al.   Pharmacogenetics and Genomics

Requirements for comprehensive pharmacogenetic genotyping platforms

(2016) Volker M Lauschke et al.   PHARMACOGENOMICS

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

(2016) Greyson P Twist et al.   npj Genomic Medicine

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline forUGT1A1and Atazanavir Prescribing

(2015) RS Gammal et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Genetic variation in the human cytochrome P450 supergene family

(2015) Kohei Fujikura et al.   Pharmacogenetics and Genomics

Pharmacogenomic information in drug labels: European Medicines Agency perspective

(2015) F Ehmann et al.   PHARMACOGENOMICS JOURNAL

The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1 and Simvastatin-Induced Myopathy: 2014 Update

(2014) L B Ramsey et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 Update

(2014) M A Martin et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450 2D6 Genotype and Codeine Therapy: 2014 Update

(2014) K R Crews et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Challenges in CYP2D6 Phenotype Assignment from Genotype Data: A Critical Assessment and Call for Standardization

(2014) J. Hicks et al.   CURRENT DRUG METABOLISM

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

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

(2014) Martin Kircher et al.   NATURE GENETICS

Personalized pharmacogenomics profiling using whole-genome sequencing

(2014) Clint Mizzi et al.   PHARMACOGENOMICS

Three-stage quality control strategies for DNA re-sequencing data

(2013) Y. Guo et al.   BRIEFINGS IN BIOINFORMATICS

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update

(2013) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update

(2013) S A Scott et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

ACMG clinical laboratory standards for next-generation sequencing

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

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

Next-generation sequencing of pharmacogenes

(2013) Britt I. Drögemöller et al.   Pharmacogenetics and Genomics

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

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

(2012) M. R. Nelson et al.   SCIENCE

Drug Transporters in Drug Efficacy and Toxicity

(2011) M.K. DeGorter et al.   Annual Review of Pharmacology and Toxicology

Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing

(2011) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing

(2011) J A Johnson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450-2C19 (CYP2C19) Genotype and Clopidogrel Therapy

(2011) S A Scott et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Population Differences in Major Functional Polymorphisms of Pharmacokinetics/pharmacodynamics-related Genes in Eastern Asians and Europeans: Implications in the Clinical Trials for Novel Drug Development

(2011) Kouichi Kurose et al.   Drug Metabolism and Pharmacokinetics

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

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

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Prolonged neutropenia after irinotecan-based chemotherapy in a child with polymorphisms of UGT1A1 and SLCO1B1

(2009) S Sakaguchi et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2009) Prateek Kumar et al.   Nature Protocols

Rapid Allelic Discrimination by TaqMan PCR for the Detection of the Gilbert's Syndrome Marker UGT1A1*28

(2008) Ursula Ehmer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS