ArticleFrontiers in genetics2019
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 54 citations in OpenAlex.
- Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Deconvoluting Gut Versus Liver Cytochrome P450 3A4 Function: Drug Probes, Biomarkers, and Tissue Biopsy.Journal of clinical pharmacology · 2026Review
- Transcription factors of the Nuclear Factor I (NFI) family control hepatocyte differentiation and cytochrome P450 activity in human liver.Pharmacological research · 2025Article
- ADME related patterns to predict the prognosis and immune therapy of colon cancer patients.Scientific reports · 2025Article
- Hazardous Interactions Between Food, Herbs, and Drugs in the First Stage of Biotransformation: Case Reports of Adverse Drug Interactions in Humans.International journal of molecular sciences · 2025Review
- ADME gene-driven prognostic model for bladder cancer: a breakthrough in predicting survival and personalized treatment.Hereditas · 2025Article
- The liver proteome of individuals with a natural UGT2B17 complete deficiency.Scientific reports · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Development and validation of a prognostic signature of breast cancer based on drug absorption, distribution, metabolism and excretion (ADME)-related genes.Scientific reports · 2024Article
- Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.Molecular biology reports · 2023Review
- Structural variation of the coding and non-coding human pharmacogenome.NPJ genomic medicine · 2023Article
- Identification of a novel prognostic ADME-related signature associated with tumor immunity for aiding therapy in head and neck squamous cell carcinoma.Cancer gene therapy · 2023Article
- Primary Hepatocyte Isolation and Cultures: Technical Aspects, Challenges and Advancements.Bioengineering (Basel, Switzerland) · 2023Review
- PAnno: A pharmacogenomics annotation tool for clinical genomic testing.Frontiers in pharmacology · 2023Article
- Integrated Approaches to Identify miRNA Biomarkers Associated with Cognitive Dysfunction in Multiple Sclerosis Using Text Mining, Gene Expression, Pathways, and GWAS.Diagnostics (Basel, Switzerland) · 2022Article
- "Chemical research in toxicology · 2022Review
- Hepatic Expression of the NaInternational journal of molecular sciences · 2022Article
- A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms inPharmaceuticals (Basel, Switzerland) · 2022Article
- SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants.Journal of personalized medicine · 2022Article
- Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.Frontiers in pharmacology · 2022Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We developed a panel-based NGS pipeline for comprehensive analysis of 340 genes involved in absorption, distribution, metabolism and excretion (ADME) of drugs, other xenobiotics, and endogenous substances. The 340 genes comprised phase I and II enzymes, drug transporters and regulator/modifier genes within their entire coding regions, adjacent intron regions and 5' and 3'UTR regions, resulting in a total panel size of 1,382 kbp. We applied the ADME NGS panel to sequence genomic DNA from 150 Caucasian liver donors with available comprehensive gene expression data. This revealed an average read-depth of 343 (range 27-811), while 99% of the 340 genes were covered on average at least 100-fold. Direct comparison of variant annotation with 363 available genotypes determined independently by other methods revealed an overall accuracy of >99%. Of 15,727 SNV and small INDEL variants, 12,022 had a minor allele frequency (MAF) below 2%, including 8,937 singletons. In total we found 7,273 novel variants. Functional predictions were computed for coding variants (
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