Targeted sequencing
Enrich your understanding with accurate detection of all variant types, even in the hardest-to-reach regions of the genome
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 and amplicon workflows 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.
- 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
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 workflow right for your lab
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.
Targeted sequencing datasets
| Application | Dataset | Download literature | Technology | Sequencing System |
|---|---|---|---|---|
| Target enrichment | SeraCare ctDNA w/Agilent capture panel | N/A | SBB short read | Onso system |
| Target enrichment | Twist Alliance Dark Genes Panel | HiFi sequencing with Twist Bioscience target enrichment | HiFi long read | Revio system |
| Target enrichment | Twist Alliance Dark Genes Panel | Twist Alliance Dark Genes Panel | HiFi long read | Sequel IIe system |
| Target enrichment | Twist Alliance Long Read PGx Panel | Twist Alliance Dark Genes panel | HiFi long read | Sequel IIe system |
| Target enrichment | Twist Custom BRCA1/2 Panel | HiFi sequencing with Twist Bioscience target enrichment | HiFi long read | Sequel IIe system |
| Amplicon sequencing | CYP2D6 amplicon | HiFi amplicon sequencing for pharmacogenetics: CYP2D6 | HiFi long read | Sequel IIe system |
Application note
HiFi targeted sequencing and comprehensive analysis of SMN1/2 with Paraphase
In this Application Note, we demonstrate targeted HiFi sequencing assays combined with a new informatics method for the combined analysis of SMN1 and SMN2. The software tool, Paraphase, is an informatics method that identifies full-length SMN1 and SMN2 haplotypes, determines gene copy numbers, and calls phased variants using PacBio® HiFi data.
Targeted sequencing in action
Video
Advancing pharmacogenomics research
HiFi sequencing enables comprehensive interrogation of pharmacogenomics genes such as single-gene assays or large panels.
NEW PRODUCT: HIFI TARGET ENRICHMENT WITH TWIST PROBES
Learn how you can get all the benefits of long and accurate HiFi reads at scale.
Long reads elucidate HIV envelope variants
Caskey and coworkers use targeted SMRT sequencing to determine that pre-existing variants in the HIV envelope may confer resistance to…
Identifying key players in host-microbiome interactions
HiFi sequencing of extended 16S amplicons has enabled the identification of metagenome community members at higher taxonomic…
EXPLORE
Did you know we have a comprehensive library of articles, reports, papers, and videos related to targeted sequencing?
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.