SCALE UP WITH TARGETED HIFI SEQUENCING
Targeted sequencing with HiFi reads allows you to sequence only the genomic regions you care about – easily, and cost-effectively at scale. A single Revio system can process >100,000 samples a year. HiFi sequencing can be paired with customizable approaches including:
- PCR-free native DNA panels with PureTarget
- Large gene panels with hybrid capture
- Single gene amplicons
The length and accuracy of HiFi reads combined with deep target coverage is a powerful approach for sequencing complex loci. Targeted approaches are being adopted for carrier and newborn screening, characterizing gene editing outcomes and complex genome rearrangements in cancers.
BENEFITS OF TARGETED HIFI SEQUENCING
Video animation
SCALE THAT SURPRISES EVERYONE
With Revio and PureTarget, your lab’s capacity can jump from hundreds to hundreds of thousands of samples.
Genetic testing
Illuminate complex regions of the genome that are crucial for disease identification.
Repeat expansions
Accurately resolve repetitive regions to enhance screening and discovery applications.
Rare disease
Increase rare disease solve rates and better understand biological mechanisms of disease.
Gene editing
Assess on- and off-target CRISPR-Cas9 gene editing outcomes and conduct insertion site analysis.
THREE TARGETED APPROACHES AND WHEN TO CHOOSE
PureTarget
A reimagined product that combines CRISPR-Cas9 technology for target enrichment and long and accurate HiFi reads to tackle the most challenging genomic regions at scale. Fixed panels available for carrier screening/recessive genetic disease and repeat expansion disorders, plus custom panel designs. PureTarget libraries capture DNA in its native form, including epigenetic signatures like methylation. Your data can be free from errors and artifacts that can be introduced by PCR or hybridization capture methods.
PureTarget tech page Puretarget custom tech note
Video playlist
New to HiFi and eager to learn more? Check out our spotlight on clinical sequencing playlist.
Hybrid capture
Combine targeted long read panels from PacBio compatible partners with PacBio long and accurate HiFi reads to efficiently sequence your priority genomic regions at scale. Optimized panels are available for HLA, pharmacogenes (e.g., CYP2D6), hereditary cancer, and more. Or develop your own custom designs.
Hybrid capture app brief PacBio protocol
Amplicons
Enjoy a simplified and highly scalable workflow with full length sequencing of amplicons from 500 bp to 15 kb. If you can amplify it, PacBio can sequence it full length. Convert existing Sanger or NGS workflows for HiFi sequencing or develop your own amplicon panels. For ultra-high-throughput assays, boost your sample pull through up to 16-fold with Kinnex concatenation.
Amplicon app brief Amplicon concatenation tech note Multiplexing guidance
Customer spotlight
BERRY GENOMICS LEADS THE WAY WITH AMPLICON SEQUENCING FOR GENETIC DISEASE RESEARCH
One of China’s more prominent clinical genomics companies, Berry Genomics, is a leader in the prevention of genetic birth defects. Berry achieved the first regulatory clearance of a clinical-grade long-read sequencer when the Sequel II CNDx system received Class III Medical Device Registration approval from the National Medical Products Administration (NMPA) in China. Berry was also the first customer to receive shipment of the benchtop Vega systems, which join Berry’s fleet of HiFi platforms. Berry has sequenced more than 300,000 Thalassemia samples and helped contribute to a 3-5% increase in findings compared to traditional assays.
BERRY PUBLICATION HIGHLIGHTS
SPINAL MUSCULAR ATROPHY
A more clinically effective long-read sequencing-based approach for comprehensive analysis of spinal muscular atrophy
THALASSEMIA
Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening
CONGENITAL ADRENAL HYPERPLASIA
Comprehensive analysis of congenital adrenal hyperplasia using long-read sequencing
Tech note
CONCATENATING AMPLICONS USING PACBIO KINNEX KITS TO INCREASE THROUGHPUT
Scale sample throughput by up to 16-fold with concatenation workflows supported by Kinnex kits.
APPLICATION SPOTLIGHT
Learn how gene editing researchers are using PureTarget to characterize engineered animal models with exceptional accuracy. With high depth of coverage of native DNA, it is possible to identify mosaicism in founder lines and track inheritance in their progeny.
Read study Customer success story Watch webinar
Research spotlight
PureTarget and HiFi sequencing of SCA10 samples reveal diverse repeat motifs with implications for disease progression
Partner spotlight
Qiagen and PacBio partner to deliver long-read panels optimized for HiFi sequencing. Curated panels available for HLA and hereditary cancer, or design your own custom panel.
Partner webinar HLA panel poster Hereditary cancer panel poster
PURETARGET SCIENTIFIC POSTER COLLECTION
ACMG 2025
- Sequencing platform comparison
- Technical replicates of reference Coriell samples with repeat expansions
AMP 2025
- Manual and automation workflow comparison
- Benchmarking study of 19 for repeat expansions genes
- Benchmarking study of SMN, F8, and CYP21A2 samples
SOFTWARE SPOTLIGHT
Did you know you can perform coverage analysis for all of your targeted sequencing libraries in SMRT Link? From PureTarget, to amplicons, to hybrid capture panels, all you need to generate summary plots and downloadable files is your demultiplexed datasets, a reference genome, and a BED file specifying the coordinates of your target regions. Custom panels have never been easier.
SMRT Link user guide Technical training
Targeted sequencing datasets
| Application | Dataset | Download literature | Technology | Sequencing system |
|---|---|---|---|---|
| PureTarget 2.0 | Carrier panel Nanobind 96plex | Carrier panel app note | HiFi long read | Revio + SPRQ |
| PureTarget 2.0 | Carrier panel Coriell 16plex | Carrier panel app note | HiFi long read | Revio + SPRQ |
| PureTarget 2.0 | Carrier panel Coriell 16plex | Carrier panel app note | HiFi long read | Vega system |
| PureTarget 2.0 | Repeat Expansion 2.0 Nanobind Coriell 48plex | Repeat expansion app note | HiFi long read | Revio + SPRQ |
| PureTarget 2.0 | Repeat Expansion 2.0 Nanobind Coriell 48plex | Repeat expansion app note | HiFi long read | Vega system |
YOUR MOMENT IS WAITING
Long reads at a lower cost and higher throughput. From the fullest picture to the finest detail, your moment of discovery is waiting.