Pharmacogenetics and Drug Metabolism

Functional characterization of six SLCO1B1 (OATP1B1) variants observed in Finnish individuals with a psychotic disorder

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

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population

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.

Design and performance of a long-read sequencing panel for pharmacogenomics

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

Allelic diversity of the pharmacogene CYP2D6 in New Zealand Maori and Pacific peoples

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

Cas9 targeted nanopore sequencing with enhanced variant calling improves CYP2D6-CYP2D7 hybrid allele genotyping

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

Predicting Nicotine Metabolism Across Ancestries Using Genotypes

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

Single molecule long-read real-time amplicon-based sequencing of CYP2D6: a proof-of-concept with hybrid haplotypes

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

Common and rare variants in SLCO1B1 are associated with statin intolerance

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.

Comprehensive assessment of Indian variations in the druggable kinome landscape highlights distinct insights at the sequence, structure and pharmacogenomic stratum

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.

Analysis of the CYP1A2 caffeine metabolism gene in the student population at Lake Superior State University

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

CLINICAL OPPORTUNITIES FOR GERMLINE PHARMACOGENETICS AND MANAGEMENT OF DRUG-DRUG INTERACTIONS IN PATIENTS WITH ADVANCED SOLID CANCERS

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

Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

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.

The Contribution of Pharmacogenetic Drug Interactions to 90-Day Hospital Readmissions: Preliminary Results from a Real-World Healthcare System

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.

Cross-validation of technologies for genotyping CYP2D6 and CYP2C19

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

Allelic and Genotypic Frequencies of NAT2, CYP2E1 and AADAC genes in a cohort of Peruvian Tuberculosis Patients

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.

Genetic polymorphism of CYP2C19 and subcortical variability in the human adult brain

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.

Massively parallel characterization of CYP2C9 variant enzyme activity and abundance

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.

G6PD variant distribution in sub-Saharan Africa and potential risks ofusing chloroquine/hydroxychloroquine based treatments forCOVID-19

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.

Single nucleotide polymorphism induces divergent dynamic patterns in CYP3A5: a microsecond scale biomolecular simulation of variants identified in Sub-Saharan African populations

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.

Biobank scale pharmacogenomics informs the genetic underpinnings of simvastatin use

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

Exploration of interethnic variation and repurposed drug efficacy in the treatment of SARS-CoV-2 Infection (COVID-19)

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

Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data

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

Exploration of interethnic variation in the ibuprofen metabolizing enzyme CYP2C9: a genetic-based cautionary guide for treatment of COVID-19 symptoms

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

Practical barriers and facilitators experienced by patients, pharmacists and physicians to the implementation of pharmacogenomic screening in Dutch outpatient hospital care - an explorative pilot study

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

Pharmacogenetics at scale: An analysis of the UK Biobank

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.

Transfer learning enables prediction of CYP2D6 haplotype function

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

Drug Response Pharmacogenetics for 200,000 UK Biobank Participants

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

Integration of the Drug-Gene Interaction Database (DGIdb) with open crowdsource efforts

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.

Population structure and pharmacogenomic risk stratification in the United States

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

The extent and impact of variation in ADME genes in sub-Saharan African populations

This study characterizes ADME gene variation in sub-Saharan African populations, identifying novel variants and highlighting the need for tailored pharmacogenomic approaches.