Pharmacogenetics and Drug Metabolism

The paper introduces a pharmacogenetic annotation database and search tool for 1000 Genomes Project biospecimens, enabling allele haplotype and diplotype analysis and supporting clinical PGx assay development.

This study identifies co-evolution and co-regulation in CYP3A and CYP4F genes across human populations, linking genetic diversity to drug metabolism and health outcomes.

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 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 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.

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.

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

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.

This paper introduces a deep learning model, Hubble.2D6, to predict CYP2D6 haplotype function with 88% accuracy, aiding in drug response prediction.

The paper analyzes pharmacogenetic interactions in 200,000 UK Biobank participants to identify associations between genetic variants and drug response.

DGIdb 4.0 aggregates drug-gene interaction and druggability claims from 41 sources, adding crowd-sourced Drug Target Commons, Wikidata-based drug normalization, search-relative query scores, and NDEx export.

The paper assesses the utility of genetic ancestry for pharmacogenomic risk stratification compared to self-identified race/ethnicity in a U.S. cohort.

The paper evaluates 20 SNP prediction tools on CYP2D6 missense variants, finding FATHMM performs best with a Matthews correlation coefficient of 0.39.

The paper investigates NAT2 polymorphisms and their effect on isoniazid pharmacokinetics in HIV-infected South Africans with tuberculosis, finding no significant genotype-phenotype correlation.

The paper develops a multiplex pharmacogenetics assay using MinION nanopore sequencing to genotype variants related to clopidogrel and warfarin, achieving >90% accuracy for most variants.

This study uses nanopore sequencing to genotype CYP2D6, accurately haplotype alleles, and detect duplications by analyzing allelic balance.