Pharmacogenetics and Drug Metabolism

This paper introduces PharmGScore, a genetic variant burden scoring system for antidepressant response, showing it outperforms existing methods and identifies gene associations with antidepressant toxicity.

The paper identifies sex-biased adverse event drug targets and metabolism genes, showing their sex-specific gene expression and regulatory networks.

This study develops a PBPK model to assess CYP2E1 activity using chlorzoxazone, showing how ethanol consumption, abstinence, and liver impairment affect its metabolism.

This paper introduces a new protocol for CYP2D6 haplotype phasing using Agena MassARRAY data, achieving 100% concordance with prior data and resolving copy numbers in some reference samples.

The paper analyzes pharmacogenetic variant frequencies in the MVP dataset to represent US population diversity across different ancestries.

The paper investigates six rare SLCO1B1 variants in Finnish individuals with psychosis, finding one variant causes loss-of-function and reduced OATP1B1 protein expression.

The paper evaluates the frequency and impact of pharmacogenetic alleles in a diverse biobank population, finding high prevalence of actionable alleles and disparities by ancestry.

The paper presents a long-read sequencing panel for pharmacogenomics, achieving high accuracy and phasing for SNVs and clinical star(*)-alleles.

The paper identifies novel CYP2D6 variants and suballeles in New Zealand Māori and Pacific populations, highlighting the high frequency of CYP2D6*71.

The paper develops a genotyping assay to accurately determine CYP2D6-CYP2D7 hybrid alleles using optimized nanopore sequencing and a new analysis pipeline.

This paper develops models to predict nicotine metabolism ratios using genotypes and individual characteristics across different ancestries.

This paper develops a HiFi SMRT amplicon-based method to accurately detect CYP2D6 haplotypes, including fusion genes, with high alignment accuracy.

This study shows that considering both loss-of-function and gain-of-function variants in SLCO1B1 improves the prediction of statin intolerance compared to using only the Val174Ala variant.

This study analyzes Indian genetic variations in the kinome to identify sequence, structural, and pharmacogenomic differences compared to global datasets, highlighting implications for drug safety and adverse reactions.

This study examines caffeine metabolism variation in LSSU students, finding allele frequencies similar to the general population and highlighting Native American subpopulation differences.

The paper assesses opportunities for germline pharmacogenetics and drug-drug interaction management in advanced cancer patients using EHR data and CPIC guidelines.

The paper constructs a CYP2D6 copy-number imputation panel and reports pharmacogenetic variant frequencies in Finnish individuals with psychosis, showing high imputation accuracy but limited clinical utility.

This study examines the association between pharmacogenetic drug interactions and 90-day hospital readmissions, finding a 33% increased risk after adjusting for demographic and clinical factors.

The paper cross-validates genotyping methods for CYP2D6 and CYP2C19, finding high concordance for CYP2C19 and feasibility of NGS for CYP2D6 with automated interpretation.

The paper examines genetic polymorphisms in NAT2, CYP2E1, and AADAC genes in Peruvian tuberculosis patients, finding high frequencies of slow metabolizer genotypes and implications for drug response and resistance.

This study examines the association between CYP2C19 genetic polymorphism and subcortical brain volume in adults, finding a gender-specific link between CYP2C19 activity and brain structure.

The paper characterizes CYP2C9 variant enzyme activity and abundance using Click-seq and VAMP-seq, finding that two-thirds of variants show decreased activity and abundance explains half the functional variation.

The paper analyzes G6PD variant distribution in sub-Saharan Africa and highlights potential risks of using chloroquine/hydroxychloroquine for COVID-19 due to G6PD deficiency.

This study uses molecular dynamics simulations to analyze the impact of rare CYP3A5 variants from Sub-Saharan African populations on protein structure and drug binding.

This paper identifies associations between NAT2 haplotype variation and simvastatin use, showing NAT2*1 is linked to better response to simvastatin therapy.

This study examines interethnic variation in drug metabolism enzymes and its impact on repurposed drug efficacy for COVID-19 treatment.

Cyrius accurately genotypes CYP2D6 using whole-genome sequencing data, outperforming existing methods and improving accuracy to 99.3%.

The paper examines interethnic variation in CYP2C9, a gene affecting ibuprofen metabolism, in a Jordanian cohort to inform safer treatment of COVID-19 symptoms.

This study identifies barriers and facilitators to implementing pharmacogenomic screening in Dutch outpatient care through stakeholder perspectives.

The paper analyzes pharmacogenetics in the UK Biobank, finding that most individuals may have atypical drug responses and non-European populations have more deleterious variants.