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PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.

Adam S Gordon1, Robert S Fulton, Xiang Qin

  • 1aDepartment of Genome Sciences, University of Washington, Seattle, Washington bThe Baylor College of Medicine Human Genome Sequencing Center, Houston, Texas cThe Genome Institute at Washington University, St Louis, Missouri, USA.

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PGRNseq, a custom-target sequencing panel, offers a cost-effective method for analyzing pharmacogenetic variation. This tool provides ultra-deep coverage and high accuracy, identifying novel variants for research and clinical use.

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Area of Science:

  • Genetics
  • Pharmacology
  • Bioinformatics

Background:

  • Whole-genome and whole-exome sequencing are costly for large genetic variation studies.
  • Custom-target sequencing offers a balance of cost, throughput, and deep coverage.

Purpose of the Study:

  • To develop and evaluate PGRNseq, a custom-capture panel for pharmacogenetic variation analysis.
  • To assess the platform's performance, accuracy, and ability to discover novel variants.

Main Methods:

  • Developed PGRNseq, a custom-capture panel of 84 pharmacogenetic genes.
  • Utilized 32 HapMap trios and two clinical cohorts for validation.
  • Assessed platform performance, accuracy, and novel variant discovery.

Main Results:

  • PGRNseq achieved ultra-deep coverage (mean=496x) with >99.8% concordance.
  • Identified numerous novel and rare variants of interest.
  • Demonstrated utility in both research and clinical settings.

Conclusions:

  • PGRNseq is ideal for large-scale pharmacogenetic variation studies.
  • High genotype accuracy supports its use as a clinical test.