Alliance Long-Read PGx v2 Panel

Long-read target enrichment for accurate pharmacogenomic variant detection across complex genomic regions

Resolve complex PGx regions

Accurate haplotype detection

Optimized for long-read workflows

Panel content and specifications

Panel size
1.8 Mb
Genes
30

Samples per ~30 Gb run*

Sequel IIeSMRT Cell 8M (HiFi)
277
GridIONR10.4.1
277

Need mitochondrial coverage? Add the Twist Mitochondrial Panel.

*Assumes 30x mean target coverage with 50% off-target.

Including more than 50 biologically significant genes

CYP

8 genes
  • CYP1A2
  • CYP2B6
  • CYP2C19
  • CYP2C9
  • CYP2D6
  • CYP3A4
  • CYP3A5
  • CYP4F2

HLA

2 genes
  • HLA-A
  • HLA-B

General PGx

20 genes
  • ABCG2
  • CACNA1S
  • CFTR
  • COMT
  • DPYD
  • F2
  • F5
  • G6PD
  • HTR2A
  • IFNL3
  • MTHFR
  • NAT2
  • NUDT15
  • OPRM1
  • RYR1
  • SLC6A4
  • SLCO1B1
  • TPMT
  • UGT1A1
  • VKORC1

Sample-tracking SNPs

26 SNPs

26 SNPs included to confirm sample identity across runs.

  • rs2229546
  • rs1410592
  • rs10883099
  • rs4617548
  • rs7300444
  • rs9532292
  • rs2297995
  • rs4577050
  • rs2070203
  • rs1037256
  • rs9962023
  • rs2228611
  • rs497692
  • rs10203363
  • rs10373
  • rs4148973
  • rs4675
  • rs2819561
  • rs4688963
  • rs309557
  • rs2942
  • rs17548783
  • rs4735258
  • rs1381532
  • AMELX
  • AMEL

Product data

Pharmacogenes, including HLA genes and CYP2D6, are notoriously difficult to genotype via array or via short-read sequencing as they tend to have low sequence complexity and/or highly homologous pseudogenes. CYP2D6 is also subject to common partial- or whole-gene duplications and rearrangements. The Twist Alliance Long-Read PGx Panel targets 49 genes critical to drug metabolism and therapeutic response. In addition to the nuclear content, the full mitochondrial genome is covered to enable simultaneous detection of herteroplasmy.

24 GeT-RM Coriell samples were sequenced on 1 SMRT® Cell 8M on the Sequel IIe system. Samples had on average 150k HiFi reads, with a mean read length of ~5.3 kb. Only 2% of duplicates were removed from downstream analysis. Across all targets, a mean target coverage of 190x was achieved. Across all samples, 96% of target regions exceeded 20x coverage and 93% of target regions exceeded 30x coverage.

Coverage of targeted regions (top track) showed great uniformity with no gaps, unlike short-read WGS data (bottom track) exhibited gaps and variable coverage.

Frequently asked questions

Twist long-read panels were designed and optimized for sequencing on PacBio and Oxford Nanopore Technologies long-read sequencers. Please contact your local Twist representative for compatibility with other sequencers.

Yes, Twist can design and build target enrichment which are completely custom, or can augment content to existing fixed panels. Contact your Twist account manager for more information.

The different read platforms are the (A) Target enrichment of libraries for exome sequencing of protein coding regions of the genome in which short reads tiled over the exomes are captured with biotinylated probes in hybridization capture. (B) Whole-genome sequencing in which the libraries are not enriched and therefore reads will tile across the input sequences. (C) Long read data which has much longer regions covered per read, which can also be paired with a biotin bait strategy to cover specific regions of the genome with long regions. (D) Linked read data in which the reads are barcoded in a way that enables you to identify the originating fragments and link their locations in an attempt to build up longer read regions.

Twist has validated Toyobo’s KOD Xtreme® Hot Start DNA Polymerase and Twist TrueAmp polymerase to work in the long-read protocol.

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