PharmVar GeneFocus: CYP2D6

C Nofziger, AJ Turner, K Sangkuhl… - Clinical …, 2020 - Wiley Online Library
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly
polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism …

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

K Krebs, L Milani - Human genomics, 2019 - Springer
The field of pharmacogenomics (PGx) is gradually shifting from the reactive testing of single
genes toward the proactive testing of multiple genes to improve treatment outcomes, reduce …

Comprehensive genome analysis and variant detection at scale using DRAGEN

S Behera, S Catreux, M Rossi, S Truong, Z Huang… - Nature …, 2024 - nature.com
Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …

PharmVar GeneFocus: CYP2C19

MR Botton, M Whirl‐Carrillo… - Clinical …, 2021 - Wiley Online Library
The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele
nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation …

[HTML][HTML] Recommendations for clinical CYP2D6 genotyping allele selection: a joint consensus recommendation of the Association for Molecular Pathology, College of …

VM Pratt, LH Cavallari, AL Del Tredici… - The Journal of Molecular …, 2021 - Elsevier
The goals of the Association for Molecular Pathology Clinical Practice Committee's
Pharmacogenomics (PGx) Working Group are to define the key attributes of …

Reference standards for next-generation sequencing

SA Hardwick, IW Deveson, TR Mercer - Nature Reviews Genetics, 2017 - nature.com
Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is
being readily applied for the diagnosis of disease-associated genetic features. However, the …

Pharmacogenetics at scale: an analysis of the UK Biobank

G McInnes, A Lavertu, K Sangkuhl… - Clinical …, 2021 - Wiley Online Library
Pharmacogenetics (PGx) studies the influence of genetic variation on drug response.
Clinically actionable associations inform guidelines created by the Clinical …

[HTML][HTML] Recommendations for clinical CYP2C19 genotyping allele selection: a report of the Association for Molecular Pathology

VM Pratt, AL Del Tredici, H Hachad, Y Ji… - The Journal of Molecular …, 2018 - Elsevier
This document was developed by the Pharmacogenomics (PGx) Working Group of the
Association for Molecular Pathology Clinical Practice Committee, whose aim is to …

DPYD genotyping recommendations: a joint consensus recommendation of the association for molecular pathology, American college of medical genetics and …

VM Pratt, LH Cavallari, ML Fulmer, A Gaedigk… - The Journal of Molecular …, 2024 - Elsevier
The goals of the Association for Molecular Pathology (AMP) Clinical Practice Committee's
Pharmacogenomics (PGx) Working Group are to define the key attributes of …

Genophenotypic factors and pharmacogenomics in adverse drug reactions

R Cacabelos, V Naidoo, L Corzo, N Cacabelos… - International journal of …, 2021 - mdpi.com
Adverse drug reactions (ADRs) rank as one of the top 10 leading causes of death and
illness in developed countries. ADRs show differential features depending upon genotype …