Advancing Pharmacogenomics Research and the Need for Highly Accurate Long-Read Sequencing

The relatively new field of Pharmacogenomics (PGx) explores how a person’s genome affects their response to drugs to develop safe and effective medications tailored to their genetic makeup. Pharmacogenomic testing enables healthcare providers to tailor a patient’s medication and dosage to their genetic characteristics to help improve outcomes and reduce healthcare costs.

PacBio highly accurate long-read sequencing – HiFi sequencing – has helped explain and advance the understanding of specific drug-gene interactions, such that there are now a number of actionable pharmacogenomics examples.

Watch this webinar to understand how PacBio HiFi sequencing:

  • Allows for comprehensive interrogation of pharmacogenomics genes, detecting all types of variants even in challenging regions, such as pseudogenes and GC-rich context.
  • Enables sequencing of pharmacogenomics genes as single-gene assays or large panels.
  • Is highly concordant with other technologies and adds value through comprehensive variant detection, copy number assessment, and phasing.
  • Can be used in combination with pharmacogenomics sequencing, is cost effective and highly accurate.

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Author, Affiliation

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Stuart A. Scott, Ph.D.

Professor of Pathology
Stanford University Medical Center

Yao Yang, Ph.D.

Clinical Assistant Professor, Department of Pathology Stanford University
Associate Director, Clinical Genomics Laboratory

Lori Aro, MBA

Senior Director, Clinical Genomics

Lori Aro, MBA

Senior Director, Clinical Genomics