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Discovery is in the details

Generate gold-standard reference genomes and uncover the most complete view of genomic variation with PacBio long-read sequencing.

De novo Genome Assembly – no reference required

Whole genome sequencing for de novo assembly using Single Molecule, Real-Time (SMRT) Sequencing enables you to:

  • Cultivate pan-genomes to characterize the complete genetic diversity within a species
  • Develop population-specific reference genomes to drive precision medicine
  • Assemble near-complete microbial genomes and their plasmids in a single experiment

Explore further with workflows and tools for de novo assembly customized for your research focus

 

Human Biomedical
Research

Plant and Animal
Science

Microbiology and
Infectious Disease

 


Structural Variant Calling

Low-coverage, whole genome sequencing provides detection of ~20,000 unique structural variants and ~400,000 indel variants in a diploid human genome, empowering scientists to:

  • Detect novel and common structural variants of all types to increase genetic discovery power
  • Map causal variants underlying genetic disease
  • Phase structural variants and single nucleotide variants into allele-specific haplotypes

Explore further with workflows and tools for structural variant calling


 

Spotlight: Improved ape genomes drive new evolutionary comparisons

 

Scientists sequenced chimpanzee, orangutan and human genomes at >65-fold coverage and generated high-quality contiguous genome assemblies that improved gene annotation and understanding of genomic synteny among the species. Their findings also highlighted the role of structural variation in human evolution. Explore this research further:

Kronenberg, Z. N., et al. (2018). High-resolution comparative analysis of great ape genomes. Science, 360(6393).

Selected Resources