Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations

An efficient genotyper and star-allele caller for pharmacogenomics

(2023) Ananth Hari et al.   GENOME RESEARCH

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

(2023) Jesse J Swen et al.   LANCET

Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update

(2022) Craig R. Lee et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

(2022) Marta Byrska-Bishop et al.   CELL

Promoting Pharmacogenomics in Africa: Perspectives From Variation in G6PD and Other Pharmacogenes

(2022) Blessing R. Sitabule et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

StellarPGx: A Nextflow pipeline for calling star alleles in cytochrome P450 genes

(2021) David Twesigomwe et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

African genetic diversity and adaptation inform a precision medicine agenda

(2021) Luisa Pereira et al.   NATURE REVIEWS GENETICS

Profiling of warfarin pharmacokinetics‐associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics‐dosing algorithm

(2021) Arinao Ndadza et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Cytochrome P450 Enzymes and Drug Metabolism in Humans

(2021) Mingzhe Zhao et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

PharmVar GeneFocus: CYP2C19

(2020) Mariana R. Botton et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

(2020) Theo Vos et al.   LANCET

Global distribution of CYP2C19 risk phenotypes affecting safety and effectiveness of medications

(2020) Mohitosh Biswas   PHARMACOGENOMICS JOURNAL

Clinical Pharmacogenetics Implementation Consortium ( CPIC ) Guideline for CYP 2B6 and Efavirenz‐containing Antiretroviral Therapy

(2019) Zeruesenay Desta et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

(2019) Mariana R. Botton et al.   HUMAN MUTATION

An optimized prediction framework to assess the functional impact of pharmacogenetic variants

(2018) Yitian Zhou et al.   PHARMACOGENOMICS JOURNAL

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Graphtyper enables population-scale genotyping using pangenome graphs

(2017) Hannes P Eggertsson et al.   NATURE GENETICS

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Priority pharmacogenetics for the African continent: focus on CYP450

(2014) Marco Alessandrini et al.   PHARMACOGENOMICS

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A fast and robust statistical test based on likelihood ratio with Bartlett correction to identify Granger causality between gene sets

(2010) André Fujita et al.   BIOINFORMATICS

Characterization of the genetic profile ofCYP2C19in two South African populations

(2010) Britt I Drögemöller et al.   PHARMACOGENOMICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Prateek Kumar et al.   Nature Protocols