Targeted sequencing
Enrich your understanding with accurate detection of all variant types, even in the hardest-to-reach regions of the genome
Targeted sequencing solutions
PacBio targeted sequencing applications include HLA sequencing as well as applications in human biomedical research, plant and animal science, and microbial and infectious disease.
HUMAN BIOMEDICAL RESEARCH
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
Introduction to targeted sequencing
If you are using PCR, hybridization-capture, or amplification-free enrichment, HiFi sequencing allows you to discover and detect the full breadth of variants in targeted regions of the genome and transcriptome.
PacBio targeted sequencing:
Is more complete than other technologies
Confidently capture more accurate genomic information, even in regions with complex pseudogenes or low complexity regions such as repeat expansions.
Includes the full spectrum of variants
Uncover biology that other sequencing methods can miss by detecting everything from SNPs to structural variations while ensuring accurate phasing throughout.
Enables a variety of enrichment methods
HiFi sequencing allows you to use familiar target enrichment methods like amplicon sequencing or hybridization capture.
Targeted sequencing in action
Video
Advancing pharmacogenomics research
HiFi sequencing enables comprehensive interrogation of pharmacogenomics genes such as single-gene assays or large panels.
A high-resolution panel for uncovering causes of ataxis
Researchers use a No-amp targeted sequencing approach to capture and sequence…
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?
SHAPING THE FUTURE
Alzheimer’s study reveals first somatic gene recombination found in human neurons
Using an impressive array of novel and cutting-edge technologies, SMRT sequencing enabled scientists to find recombination in a gene associated with Alzheimer’s disease.
Benefits of targeted
sequencing
See the whole picture with long read lengths
Long and accurate HiFi reads allow comprehensive variant detection from single nucleotide polymorphism to insertions and deletions to structural variants.
With HiFi sequencing you can simplify analysis by reducing or eliminating the need for assembly, depending on the length of your region of interest.
Identify which variants are allelic with accurate long-range phasing
Long, accurate reads ensure you have the highest confidence in phasing haplotypes and compound variant identification, even when variants are separated by tens of kilobases.
Discriminate between genes and pseudogenes
HiFi reads map with high accuracy to the genome allowing you to obtain full-length phased gene sequences, discriminate between genes and pseudogenes, resolve extreme sequence contexts, and detect minor variants.
Experience all the benefits of RNA sequencing
Focus your sequencing on transcripts that matter while achieving the same benefits that SMRT sequencing delivers for complete transcriptome sequencing.
You can phase variants, profile isoforms, and obtain 5’ UTR sequences with long and accurate reads.
Applying targeted long-read sequencing to assess an expanded repeat in neurodegenerative disease
Dr. Van Blitterswijk shares the exciting results of her most recent targeted long-read sequencing study. In this study, she assessed the length of the C9orf72 expansion, as well as the presence of interruptions, revealing relevant clinico-pathological associations and demonstrating how powerful No-amp sequencing is.
Amplify target sequences
When sequencing amplicons, SMRT sequencing provides a fast, straightforward workflow with low DNA input requirements, phasing capability, and the chance to iterate quickly.
With SMRT sequencing’s long read lengths, you can sequence full length amplicons.
Enrich Multiple Targets with Probe Capture
For multiple genes, hybridization capture can enrich many targets at once. Target single regions of interest or resolve an entire gene or gene family with a tiled probe design.
Probe capture can enrich DNA or cDNA from humans, plants and animals, or viruses.
Without amplification using no-amp
Enrich hard-to-amplify genomic regions like repeat expansions with our no-amplification (No-amp) targeted sequencing method which uses the CRISPR-Cas9 system.
- Eliminate PCR bias and errors
- Sequence through entire repeat expansions with base-level resolution
- Quantify repeat numbers in normal- and mutant-expanded alleles
- Identify interruption sequences
- Characterize somatic mosaicism
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
Sequel II Systems
Sequel systems generate longer reads with greater accuracy and throughput, at a significantly lower cost.