Targeted sequencing

Enrich your understanding with accurate detection of all variant types, even in the hardest-to-reach regions of the genome

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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.

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HUMAN BIOMEDICAL RESEARCH

Cost-effectively explore the full variation of the regions of the genome that matter to you.

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HLA SEQUENCING

Overcome gene-family complexity and extreme polymorphism to identify true HLA allelic diversity.

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PLANT + ANIMAL SCIENCES

Gain a comprehensive view of specific genomic regions of interest, regardless of genome size or complexity.

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MICROBIAL + INFECTIOUS DISEASE RESEARCH

Resolve viral populations to better understand evolution, quasispecies dynamics, drug-resistance, and immune escape

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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

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A high-resolution panel for uncovering causes of ataxis

Researchers use a No-amp targeted sequencing approach to capture and sequence…

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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…

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Identifying key players in host-microbiome interactions

HiFi sequencing of extended 16S amplicons has enabled the identification of metagenome community members at higher taxonomic…

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EXPLORE

Did you know we have a comprehensive library of articles, reports, papers, and videos related to targeted sequencing?

Explore resources

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.

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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.

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Phasing graph image showing comparison between capture-based short read and long-read SMRT sequencing - PacBio - PacBio

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.

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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.

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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.

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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.

PCR based amplicons graph - PacBio

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PCR based hybridization capture image - PacBio

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

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Targeted sequencing workflow at a glance

Easy-to-use, high-throughput sequencing for the accuracy you need at an affordable cost

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Straightforward library prep

Go from sample to sequencer in a single afternoon

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Complete + accurate sequencing

Obtain accurate, unbiased, and long reads

Directly detect epigenetic modifications

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Universal file types

Analyze data using any of the common genome assembly and analysis tools

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Sequel II Systems

Sequel systems generate longer reads with greater accuracy and throughput, at a significantly lower cost.

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Talk with an expert

If you have a question, need to check the status of an order, or are interested in purchasing an instrument, we're here to help.