Targeted sequencing
Targeted sequencing with HiFi reads allows you to sequence only the genomic regions you care about — easily and cost-effectively at scale. Hybrid capture, amplicon, and PCR-free PureTarget methods are available to suit your needs, giving you all the benefits you expect from HiFi reads including accurate haplotype resolution and comprehensive detection of all variant types. The length and accuracy of HiFi reads allow you to access genomic dark regions such as areas of high homology, GC-rich and repetitive regions, and to resolve complex gene families like HLA and pharmacogenes like CYP2D6, and sequence full-length repeat expansion targets with methylation.
- Cost-effective and flexible scaling
- Robust coverage of difficult-to-sequence or difficult-to-map regions
- Ancestry-agnostic discovery of rare or novel variants
- High-accuracy variant calling
- Unambiguous haplotype resolution through direct phasing
- Custom panels, flexible scaling, cost-effective projects
- Consolidate legacy molecular workflows into one assay
Shine a light on dark regions of the genome with the PureTarget repeat expansion panel
Scalable solution for deep sequencing of repeat expansions
Multiplex 48 samples per SMRT Cell on Vega and Revio systems, and 24 samples per SMRT Cell on the Sequel IIe system. With streamlined library prep and analysis support in SMRT Link 13.1, go from samples to answer in 3 days.
What does comprehensive genotyping look like?
- Accurate sizing of both alleles, including large repeat expansions
- Single base resolution of repeat sequence
- Simultaneous detection of methylation
- Deep coverage so you can profile mosaicism
What genes are included in the panel?
AR, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, C9ORF72, CACNA1A, CNBP, DMPK, FMR1, FXN, HTT, PABPN1, PPP2R2B, RFC1, TBP, TCF4
[WEBINAR] HiFi on the brain – advancing Parkinson’s disease research using HiFi sequencing
Americas/Europe broadcast: December 17, 8:00 AM PST | 4:00 PM GMT
Asia-Pacific broadcast: December 18, 9:00 AM SGT
In this webinar, learn about the sequencing technology that is pushing neuroscience research forward, particularly in Parkinson’s disease. Discover how HiFi whole genome sequencing (WGS) and the PacBio Iso-Seq method provide complete visibility into all genomic variants, reveal crucial transcript isoform information, and ultimately enable the potential development of novel therapeutics.
Human genomics
Cost-effectively explore the full variation of the regions of the genome that matter to you.
HLA SEQUENCING
Overcome gene-family complexity and extreme polymorphism to identify true HLA allelic diversity.
PLANT + ANIMAL SCIENCES
Gain a comprehensive view of specific genomic regions of interest, regardless of genome size or complexity.
MICROBIAL + INFECTIOUS DISEASE RESEARCH
Resolve viral populations to better understand evolution, quasispecies dynamics, drug resistance, and immune escape
Pick the right workflow for your lab
PureTarget repeat expansion panel
A reimagined product that combines CRISPR-Cas9 technology for target enrichment and long and accurate HiFi reads to sequence the most challenging genomic regions at scale. Multiplex samples on Revio and Sequel II systems for a panel of 20 pathogenic repeat expansion targets linked to human disease. PureTarget libraries consist of DNA in its native form, including epigenetic marks like methylation and are free from errors and artifacts that can be introduced by PCR or hybridization capture methods.
View brochure Read app note View PureTarget page
HiFi Target Enrichment
Combine Twist Bioscience target enrichment with PacBio long and accurate HiFi reads to efficiently sequence your priority genomic regions at scale. Sequence enriched regions with a protocol optimized for HiFi reads to get comprehensive detection of single nucleotide variants, structural variants, and indels with haplotype resolution. HiFi target enrichment can deliver accurate alleles for complex gene families such as immune genes (e.g., HLA) and pharmacogenes (e.g., CYP2D6).
HiFi target enrichment enables you to sequence at scale with ready-made Twist Alliance Panels or custom designs. Learn more about Twist and plan your project with this app brief.
HiFi amplicon sequencing
Enjoy a simplified workflow with one primer pair and one amplicon pool, easy assay optimization, long-range phasing, and simplified data analysis. Target medically relevant, individual genes or small gene panels using a PCR-based approach. If you can amplify it, HiFi sequencing can span your amplicon in a single read, giving unambiguous haplotype resolution through direct phasing. HiFi amplicon sequencing allows you to replace multiple assays with one fast, easy, scalable, and economical workflow.
Plan your project with this resource and learn more about our barcoding products.
CYP21A2 App Note CYP2D6 App Note
SMN1/2 App Note
On-demand webinar
Characterizing C9ORF72 repeat expansions and transcripts using HiFi sequencing
Explore how the PureTarget repeat expansion panel offers comprehensive sequence information for pathogenic repeats, providing clarity where short reads and traditional methods may fall short.
Targeted sequencing datasets
Application brief
Scalable HiFi sequencing with Twist Bioscience long-read alliance panels
Access many benefits of PacBio® HiFi long-read sequencing at a fraction of the cost with Twist Bioscience long-read sequencing panels. Twist Bioscience’s target enrichment technology provides high capture efficiency and exceptional uniformity across target regions.
Resources
Application notes
- HiFi amplicon sequencing for congenital adrenal hyperplasia
- HiFi amplicon sequencing for Thalassemia
- HiFi amplicon sequencing for pharmacogenetics: CYP2D6
- HiFi targeted sequencing and comprehensive analysis of SMN1/2 with Paraphase
Application briefs
- HiFi target enrichment with Twist
- Targeted sequencing for amplicons
- Twist dark regions application brief
Protocols
Blog
Shining a light on dark genes
Countries around the world have recognized the value of precision health and population genomics research initiatives. They have launched efforts to sequence thousands to millions of genomes in order to learn more about how complex or rare inherited diseases impact their populations and how to mitigate their impacts. The goal? Building diverse health databases, learn how biology and lifestyle affect health, and bring us closer to a future where precision medicine is the standard.
But a population genomics program database can only be as good as the data it collects. Which raises the question – are the programs in place today able to collect everything they need to be the most effective for their target population?
Targeted sequencing workflow at a glance
Easy-to-use, high-throughput sequencing for the accuracy you need at an affordable cost
Straightforward library prep
Go from sample to sequencer in a single afternoon
Complete + accurate sequencing
Obtain accurate, unbiased, and long reads. Directly detect epigenetic modifications.
Universal file types
Analyze data using any of the common genome assembly and analysis tools
YOUR MOMENT IS WAITING
Long reads at a lower cost and higher throughput. Short reads with near-perfect accuracy. From the fullest picture to the finest detail, your moment of discovery is waiting.