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Gain comprehensive access to human genetic variation

PacBio de novo genome assemblies deliver megabase-size contig N50s, consensus accuracies >99.99%, and phased haplotypes so you can generate reference-quality assemblies of diverse populations to better understand the complexity of human health and disease.

Generate Reference-quality de novo Assemblies

With Single Molecule, Real-Time (SMRT) 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

Workflow: from DNA to Complete Human Genomes


Sample and Library Prep
Fast and simple library preparation performed in a single tube.

Sequencing
Use the Sequel II System to accurately sequence a human genome.

Learn More


Data Analysis
Analysis solutions for every user in the lab with the PacBio analytical portfolio.

Learn More


 

Application Brief: Learn more about these best practices for generating high-quality de novo genome assemblies.

 

 


 

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.

Explore Further

 

To learn more about whole genome sequencing solutions, contact us.

Selected Resources