Error-profile-aware genotyping for tandem repeat regions
This technology improves the accuracy of identifying genetic variations in repetitive DNA regions — called tandem repeats — from sequencing data. Standard sequencing tools struggle with repeats because the machinery makes predictable errors in those regions; this method builds a custom error profile from the actual properties of each read (repeat length, purity, base quality) and uses that profile to calculate the probability that any given reading reflects a true genetic variant versus a sequencing mistake. It then applies Bayesian statistics to assign the most likely genotype. The result is more reliable variant calling in regions of the genome that are notoriously difficult to interpret.
What you could build
A software module or API integrated into clinical genomics pipelines — sold to diagnostic labs, biotech companies, or genomics platform vendors — that improves variant calling accuracy in repeat-rich genomic regions relevant to disease diagnosis.
Who in Virginia should care
Northern Virginia biotech and life sciences firms, genomics startups, and federal health agencies (NIH, DoD) with precision medicine or forensic genomics programs would be natural contacts.
Readiness: Lab validated
Concept — described but not yet demonstrated. Lab validated — supported by experimental results in the patent. Prototype likely — the text describes a built, working embodiment.
Readiness is inferred from the patent text, not from a lab visit.
The record
- Inventors
- David A. Mittelman, Christopher T. Franck
- Granted
- March 13, 2018
- Status
- Granted patent
- Patent number
- 9916416
Ready to talk?
Virginia Tech Intellectual Properties handles licensing for this technology.
Prosim summaries are generated from public patent text and are not legal advice.