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Development and Optimization of a 43 Gene Pharmacogenomic Panel Using Enrichment-Based Capture and PacBio HiFi Sequencing

Abstract #: 2021-A-1822-ASHG Daniel Portik [1], Ting Hon [1], Josiah Wilcots [1], Nina Gonzaludo [1], Yao Yang [2,3], Nathan A. Hammond [3], Zev Kronenberg [1], Nathaniel Watson [3], John Harting [1], Euan Ashley [4], Janet Ziegle [1], Stuart A. Scott [2,3], Sarah Kingan [1]

1. PacBio, 1305 O’Brien Drive, Menlo Park, CA 94025; 2. Department of Pathology, Stanford University, Stanford, CA 94305; 3. Clinical Genomics Laboratory, Stanford Health Care, Palo Alto, CA 94304; 4. Stanford Center for Inherited Cardiovascular Disease, Stanford, CA, 94305

Introduction Sample Preparation, Capture, and Sequencing Results

*4 VCF
00276
4/*5
*5 12kb
deletion
Col2 Col3
*4 VCF
*5 12kb
deletion
00276
4/*5
*4 VCF
*4 VCF
*5 12kb
deletion
00276
4/*5
*5 12kb
deletion

Pharmacogenomics Panel
ABCB1 CYP4F2 MTHFR
ABCG2 DPYD NAT2
Col2 Col3
ADRA2A DRD2 NUDT15
APOL1 F2 OPRD1
BCHE F5 OPRK1
COMT
G6PD
OPRM1
CTBP2P2
CYP1A2
CYP2B6
CYP2C19
GRIK4
HLA-A
HLA-B
HLA-DQA1
SLC6A4
SLCO1B1
TPMT
UGT1A1
CYP2C8
CYP2C9
CYP2D6
CYP3A4
HLA-DRB1
HTR2A
HTR2C
IFNL3
UGT2B15
VKORC1
YEATS4

For Research Use Only. Not for use in diagnostic procedures. © Copyright 2020 by Pacific Biosciences of California, Inc. All rights reserved. Pacific Biosciences, the Pacific Biosciences logo, PacBio, SMRT, SMRTbell, Iso-Seq, and Sequel are trademarks of Pacific Biosciences. Pacific Biosciences does not sell a kit for carrying out the overall No-Amp Targeted Sequencing method. Useof the No-Amp method may require rights to third-party owned intellectual property. FEMTO Pulse and Fragment Analyzer are trademarks of Agilent Technologies Inc. All other trademarks are the sole property of their respective owners.