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Calling all variant types

Structural variation accounts for most of the base pairs that differ between two human genomes and causes many genetic disorders. The ability to study structural variants, in addition to smaller single nucleotide variants and indels, is critical to understanding how genetic variation impacts health and disease in the era of Precision Medicine.

Variation between two human genomes, by number of base pairs impacted – Single nucleotide variants (SNVs); insertions and deletions (indels) involve fewer than 50 base pairs; structural variants consist of greater than 50 base pairs. Explore this research further.

 

Robust variant discovery, full assembly not required

Single Molecule, Real-Time (SMRT) Sequencing enables structural variant (SV) discovery using low-coverage, long-read whole genome sequencing. With high consensus accuracy, uniform coverage and a low false discovery rate, SMRT Sequencing allows scientists to:

  • Detect novel SV of all types and lengths with base pair resolution of breakpoints
  • Reach five-fold higher sensitivity in SV detection over other technologies
  • Phase SV and single nucleotide variants into allele-specific haplotype blocks

 

Whitepaper: Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution, and genetic diversity.


 

Workflow: from DNA to structural variation detection

 

Sample Preparation
Fast and simple whole-genome sequencing (WGS) library preparation from a low DNA input amount completed in a single tube in around 3.5 hours.

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Sequencing
Sequel Chemistry 3.0 and the Sequel System provide low-fold WGS coverage of a human genome in 1-2 days, maximizing speed and minimizing cost to increase variant discovery power.

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Data Analysis
Sensitively characterize structural variation (SV) and indels of all types ranging in size from tens to thousands of base pairs in an efficient, full-solution workflow using analytical software tools.

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Application Brief: Learn more about these best practices for low-coverage, long-read whole genome sequencing for structural variation

 

 


 

2018 Structural Variation SMRT Grant Program is Now Open!

 

Start your journey to discovery

Explore the human genome with a complete view of genetic variation. Tell us how low-coverage, whole genome sequencing will advance your disease research or population genetics study for a chance to win SMRT Sequencing.

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Structural Variation Project Calculator

 

Explore our project calculator for structural variant discovery and receive an estimate on the time and materials needed for PacBio sequencing using the Sequel System.

 


To learn more about how SMRT Sequencing resolves structural variation, contact us.

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