Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

(2018) Seung-been Lee et al.   GENETICS IN MEDICINE

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

(2018) Ibrahim Numanagić et al.   Nature Communications

Prediction of CYP2D6 phenotype from genotype across world populations

(2016) Andrea Gaedigk et al.   GENETICS IN MEDICINE

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes

(2016) Victoria M. Pratt et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

(2016) Lisa V. Kalman et al.   Annals of Laboratory Medicine

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

Cypiripi: exact genotyping ofCYP2D6using high-throughput sequencing data

(2015) Ibrahim Numanagić et al.   BIOINFORMATICS

Pharmacogenomics in the clinic

(2015) Mary V. Relling et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Haplotype-resolved genome sequencing: experimental methods and applications

(2015) Matthew W. Snyder et al.   NATURE REVIEWS GENETICS

Oral anticoagulation: a critique of recent advances and controversies

(2015) Munir Pirmohamed et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

changepoint: AnRPackage for Changepoint Analysis

(2015) Rebecca Killick et al.   Journal of Statistical Software

Opportunities and limitations: the value of pharmacogenetics in clinical practice

(2014) Ann K. Daly et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

CYP2C9 polymorphism analysis in Han Chinese populations: building the largest allele frequency database

(2013) D-P Dai et al.   PHARMACOGENOMICS JOURNAL

Pharmacogenomics Knowledge for Personalized Medicine

(2012) M Whirl-Carrillo et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Pharmacogenetics: From Bench to Byte— An Update of Guidelines

(2011) J J Swen et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Haplotype phasing: existing methods and new developments

(2011) Sharon R. Browning et al.   NATURE REVIEWS GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Polymorphism of Human Cytochrome P450 2D6 and Its Clinical Significance

(2009) Shu-Feng Zhou   CLINICAL PHARMACOKINETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE