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Updated: Oct 20, 2025

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays.

Renee C Geck¹, Gabriel Boyle¹, Clara J Amorosi¹

¹Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; email: dfowler@uw.edu, maitreya@uw.edu.

Annual Review of Pharmacology and Toxicology

|September 13, 2021

Summary

This summary is machine-generated.

Multiplexed assays now experimentally measure the function of thousands of genetic variants simultaneously. This advance is crucial for understanding pharmacogenomics and guiding personalized drug selection and dosing.

Keywords:

deep mutational scan multiplexed assay of variant effect next-generation sequencing pharmacogenomics precision medicine variable drug response

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Last Updated: Oct 20, 2025

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Published on: August 21, 2016

Area of Science:

Genomics
Pharmacogenomics
Molecular Biology

Background:

Genetic variant identification via next-generation sequencing outpaces functional consequence understanding.
This knowledge gap hinders pharmacogenomics' goal of personalized drug therapy.
Multiplexed assays offer a solution for high-throughput variant functional analysis.

Purpose of the Study:

To describe multiplexed assays for measuring the functional impact of genetic variants.
To detail experimental design advancements for these assays.
To explore challenges in utilizing multiplexed functional data for pharmacogenomics.

Main Methods:

Development and application of multiplexed assays for variant effect.
Simultaneous experimental measurement of nearly 25,000 variants.
Focus on eight key pharmacogenes (e.g., CYP2C9, VKORC1) and the LDLR promoter.

Main Results:

Successful implementation of multiplexed assays across a large number of pharmacogene variants.
Demonstration of a scalable approach to assess variant function.
Identification of areas for methodological improvement in assay design and data interpretation.

Conclusions:

Multiplexed assays are a powerful tool for elucidating pharmacogene variant function.
Addressing current challenges will enhance the clinical utility of pharmacogenomics.
This approach accelerates the translation of genetic discoveries into improved patient care.