Columbia Technology Ventures

Method for high precision detection of single nucleotide polymorphisms (SNPs)

This technology is a high precision method for identifying and locating single nucleotide polymorphisms (SNPs) in single molecules.

Unmet Need: Reliable single-molecule DNA sequencing

Current gene sequencing technologies used to identify single nucleotide polymorphisms (SNPs) utilize multiplex assays that involve mass spectrometric detection or fluorescent tags and optical detection. In addition to requiring a lot of starting sample, these methods are prohibitively expensive and time-consuming for SNP studies, and thus are not optimal for widespread use of SNPs detection. Currently, there are no available assays that offer single molecule detection sensitivity or don’t require the use of bulky instruments.

The Technology: Highly-sensitive and fast SNP detection in target nucleotide sequences

This technology uses polymer-labeled nucleotide polyphosphate analogues to detect and identify particular nucleotides of interest in nucleic acid sequences with single-molecule sensitivity. This method leverages next-generation nanopore-based sequencing technology using nucleotides and primer-conjugated nanopore proteins. Nanopores that are conjugated with customized SNP primers are prepared and single base extension is performed using differently tagged nucleotide analogs. Under an applied voltage, the tags are pulled into the pore to allow generation of characteristic current signals read in real time, allowing identification of a specific nucleotide at a given location. As a result, this technology provides an improved method for detecting SNPs with high sensitivity and reduced starting sample requirements.

Applications:

  • Large scale SNP studies
  • SNP assay for diagnostics
  • SNP assay for patient screening in personalized medicine
  • SNP assay for genotyping

Advantages:

  • Single molecule precision detection of SNPs
  • Requires small sample volumes
  • Compatible with existing nanopore-based sequencing methods
  • Real-time readout
  • Cost-effectiveness
  • High-throughput method

Lead Inventor:

Jingyue Ju, Ph.D.

Patent Information:

Patent Status

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