4.4 Article

Automated Pharmacogenomic Reports for Clinical Genome Sequencing

Related references

Note: Only part of the references are listed.
Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype

John Henry McDermott et al.

Summary: The use of aminoglycosides is associated with the risk of hearing loss, particularly in individuals with MT-RNR1 gene variants. It is advisable to avoid using aminoglycosides in individuals with MT-RNR1 variants associated with an increased risk of aminoglycoside-induced hearing loss.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2022)

Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline forCYP2C19and Proton Pump Inhibitor Dosing

John J. Lima et al.

Summary: Using CYP2C19 genotype data to guide PPI therapy can help identify patients who may need higher doses for efficacy and those who may benefit from lower doses to reduce the risk of toxicity associated with long-term use at higher plasma concentrations.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2021)

Article Genetics & Heredity

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Xiao Chen et al.

Summary: CYP2D6, responsible for metabolizing around 21% of clinically used drugs, is a critical component in personalized medicine initiatives. A new bioinformatics method called Cyrius has been developed to accurately genotype CYP2D6 using whole-genome sequencing data, showing superior performance compared to existing methods. Through improvements, Cyrius's accuracy has been increased to 99.3%, making it an important tool for integrating pharmacogenomics in WGS-based precision medicine initiatives.

PHARMACOGENOMICS JOURNAL (2021)

Article Pathology

Recommendations for Clinical CYP2D6 Genotyping Allele Selection A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy

Victoria M. Pratt et al.

Summary: The goals of the Association for Molecular Pathology Pharmacogenomics Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and determine a minimal set of variants for clinical PGx genotyping assays. Recommendations for a minimal panel and an extended panel of variant alleles are provided to aid clinical laboratories in designing assays for PGx testing, with the ultimate goal of promoting standardization across clinical laboratories. The document focuses on clinical CYP2D6 PGx testing and serves as a reference guide for laboratories implementing or updating their PGx testing platforms.

JOURNAL OF MOLECULAR DIAGNOSTICS (2021)

Article Pharmacology & Pharmacy

Pharmacogenomics Clinical Annotation Tool (PharmCAT)

Katrin Sangkuhl et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2020)

Article Biochemistry & Molecular Biology

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

Sylvan M. Caspar et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Biotechnology & Applied Microbiology

An open resource for accurately benchmarking small variant and reference calls

Justin M. Zook et al.

NATURE BIOTECHNOLOGY (2019)

Article Genetics & Heredity

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

Kalotina Machini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Pharmacology & Pharmacy

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

Seung-been Lee et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2019)

Article Genetics & Heredity

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Hana Zouk et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Review Hematology

Bioinformatics Strategies, Challenges, and Opportunities for Next Generation Sequencing-Based HLA Genotyping

Steffen Klasberg et al.

TRANSFUSION MEDICINE AND HEMOTHERAPY (2019)

Article Multidisciplinary Sciences

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

Ibrahim Numanagic et al.

NATURE COMMUNICATIONS (2018)

Article Pharmacology & Pharmacy

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database

Andrea Gaedigk et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2018)

Article Pediatrics

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Philip M. Farrell et al.

JOURNAL OF PEDIATRICS (2017)

Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy

B. Moriyama et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2017)

Article Pharmacology & Pharmacy

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

L. V. Kalman et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2016)

Article Multidisciplinary Sciences

Extensive sequencing of seven human genomes to characterize benchmark reference materials

Justin M. Zook et al.

SCIENTIFIC DATA (2016)

Article Biochemical Research Methods

Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data

Ibrahim Numanagic et al.

BIOINFORMATICS (2015)

Review Genetics & Heredity

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Heather M. McLaughlin et al.

BMC MEDICAL GENETICS (2014)

Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update

S. A. Scott et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2013)

Editorial Material Pharmacology & Pharmacy

Pharmacogenomics Knowledge for Personalized Medicine

M. Whirl-Carrillo et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)

Article Pharmacology & Pharmacy

Pharmacogenetics: From Bench to Byte-An Update of Guidelines

J. J. Swen et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2011)

Article Pharmacology & Pharmacy

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network

M. V. Relling et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2011)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)