Associated Papers
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.
Gorny M et al.
European Journal of Human Genetics : Ejhg, 2026
Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Carvalho Henriques B et al.
Translational Psychiatry, 2021
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.
Pratt VM et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
Analysis of compound heterozygous CYP2C19 genotypes to determine cis and trans configurations.
Skierka JM et al.
Pharmacogenomics, 2014
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