Human whole genome sequencing

PacBio highly accurate long reads let you generate complete and phased human genome assemblies of diverse populations to better understand the complexity of health and disease.

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Gain comprehensive access to human genetic variation

Generate reference-quality de novo assemblies

With HiFi sequencing it is possible to sequence and assemble individual human genomes to:

  • Produce references unique to a population, disease, or individual
  • Generate fully phased haplotypes to capture common alleles in the population
  • Access novel types of genetic variation and difficult-to-characterize regions
  • Use novel reference sequences to improve variant detection in population specific loci


From DNA to human genome assembly with HiFi sequencing

PacBio is the only sequencing technology to offer HiFi reads.

Use this workflow to generate high-quality de novo assemblies quickly and affordably.

HiFi reads graph - PacBio

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Library preparation

Starting with unamplified genomic DNA, prepare libraries for whole genome sequencing using standardized protocols and workflow recommendations.

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The Sequel IIe system provides affordable HiFi coverage for high-quality genome assemblies.

  • Use the Sequel II or IIe system and SMRT Cell 8M to sequence to desired coverage depth for complexity of genome
    • 10- to 15-fold coverage per haplotype recommended

* Read lengths, reads/data per SMRT Cell 8M and other sequencing performance results vary based on sample quality/type and insert size.

SMRT Analysis

Data analysis

Assemble genomes with full-solution analytical software tools and standard file formats.

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Application brief

Whole genome sequencing for de novo assembly best practices

Learn more about the best practices for whole genome sequencing for de novo assembly.


Embracing population diversity in our genomic databases

Improved sequencing technologies and reduced cost enables the genomics community to start addressing the problem of representing ethnic diversity in genomic resources.

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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.