Finding Rare Genetic Changes in Blood Using DNA Fragments
This patent describes a system and method for detecting uncommon genetic mutations and changes in gene copy numbers from DNA fragments found freely in bodily fluids, like blood.
Original patent title: “Systems and methods to detect rare mutations and copy number variation”
This patent describes a system and method for detecting uncommon genetic mutations and changes in gene copy numbers from DNA fragments found freely in bodily fluids, like blood. Granted in 2026.
Coverage
What does this patent actually cover?
The system and method detect rare mutations and copy number variations (CNVs) in cell-free polynucleotides. First, it involves sample preparation, which means extracting and isolating these DNA fragments from a bodily fluid. Next, these isolated fragments are sequenced using standard techniques. Finally, specialized computer tools, called bioinformatics, analyze the sequencing data to find rare mutations and CNVs by comparing them to a known genetic reference. For example, this could be used to screen for early signs of cancer by looking for tiny amounts of tumor DNA in a blood sample.
The gap
What does this patent NOT cover?
- Does not cover methods that analyze DNA directly from cells, only cell-free polynucleotides.
- Does not cover detection of common genetic variations that are not considered 'rare mutations' or 'copy number variations'.
- Does not cover diagnostic methods that do not involve sequencing the cell-free polynucleotides.
- Does not cover genetic analysis that does not use bioinformatics tools to compare against a reference.
- Does not cover methods that rely solely on protein markers or other non-nucleic acid biomarkers.
These exclusions are unique to PatentBrief — derived from the actual claim language, not patent-office boilerplate.
Key facts
What made this novel
The noveltynoveltyThe requirement that an invention be different from anything publicly known before its priority date.Read more → lies in specifically targeting the detection of *rare* mutations and *copy number variations* from *cell-free polynucleotides* in bodily fluids, and then using bioinformatics, potentially with a disease-specific database, to identify these subtle genetic changes.
Schematic visualization of the patent's claim structure. Hand-drawn diagrams in progress for each landmark patent.
Where you've seen this
Real-world examples
Liquid biopsies for early cancer detection
Non-invasive prenatal testing (NIPT)
Monitoring cancer recurrence through blood tests
Detecting minimal residual disease in cancer patients
Why it matters
The bigger picture
Detecting rare genetic changes early can be crucial for diagnosing diseases like cancer or genetic disorders before symptoms appear. By using cell-free DNA from bodily fluids, this method offers a less invasive way to get genetic information compared to traditional biopsies. This approach can potentially enable earlier intervention and more personalized treatments.
Filed
October 17, 2025
Granted
September 15, 2026
Market context
Who's building on this
Companies in this space
Companies like Guardant Health, Natera, and Illumina are actively developing and commercializing technologies for liquid biopsies and non-invasive genetic testing. These companies focus on detecting cell-free DNA from blood to identify cancer, monitor treatment effectiveness, or screen for genetic conditions in fetuses. Their work often involves advanced sequencing and bioinformatics similar to the methods described.
Market impact
This technology contributes to the rapidly growing field of liquid biopsies, which has transformed non-invasive diagnostics. It has enabled the development of tests that can detect cancer earlier, monitor disease progression without invasive procedures, and provide safer prenatal screening. This has created new market segments for diagnostic companies and significantly impacted patient care by offering less risky and more accessible testing options.
Claim 1 — Plain English
What this patent covers
The system and method detect rare mutations and copy number variations (CNVs) in cell-free polynucleotides. First, it involves sample preparation, which means extracting and isolating these DNA fragments from a bodily fluid. Next, these isolated fragments are sequenced using standard techniques. Finally, specialized computer tools, called bioinformatics, analyze the sequencing data to find rare mutations and CNVs by comparing them to a known genetic reference. For example, this could be used to screen for early signs of cancer by looking for tiny amounts of tumor DNA in a blood sample.
The clever bit
The novelty lies in specifically targeting the detection of *rare* mutations and *copy number variations* from *cell-free polynucleotides* in bodily fluids, and then using bioinformatics, potentially with a disease-specific database, to identify these subtle genetic changes.
What it does not cover
- Does not cover methods that analyze DNA directly from cells, only cell-free polynucleotides.
- Does not cover detection of common genetic variations that are not considered 'rare mutations' or 'copy number variations'.
- Does not cover diagnostic methods that do not involve sequencing the cell-free polynucleotides.
- Does not cover genetic analysis that does not use bioinformatics tools to compare against a reference.
- Does not cover methods that rely solely on protein markers or other non-nucleic acid biomarkers.
Patent timeline
Application submitted to the patent office
Patent officially issued
PatentBrief Score
Impact Score
Early stage
Citation count
0/40
No citations yet
Claim breadth
0/20
Narrow claimsclaimsThe numbered statements at the end of a patent that legally define what the inventor owns.Read more →
Recency
20/20
Granted within 5 years
Assignee scale
0/20
Independent or smaller assigneeassigneeThe entity that owns the patent — usually the inventor's employer or a company.Read more →
PatentBrief Impact Score — based on citation count, claim breadth, recency, and assignee scale. Not a legal assessment.
Heuristic Value Estimate
What this patent might be worth
$36K – $115K
Midpoint $72K · 19.0 yr remaining · industry ×3.0
Heuristic only — blends forward/backward citation counts, claim scope, time remaining, litigation history, and CPC-derived industry baseline. Real valuations need a professional appraisal.
Claim text not yet imported for this patent
Concepts involved
Cite this patent
(2026). Finding Rare Genetic Changes in Blood Using DNA Fragments (U.S. Patent No. 12,735,751). U.S. Patent and Trademark Office. https://patentbrief.org/patent/us/12735751/systems-and-methods-to-detect-rare-mutations-and-copy-number-variation
Auto-generated from the patent record. Double-check author order and the issue date against the official USPTO document before submitting.
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Common Questions
Frequently Asked Questions
What does Finding Rare Genetic Changes in Blood Using DNA Fragments cover?
This patent describes a system and method for detecting uncommon genetic mutations and changes in gene copy numbers from DNA fragments found freely in bodily fluids, like blood.
When does this patent expire?
This patent is expected to expire on September 15, 2046, when the invention enters the public domain.
What problem does this patent solve?
Detecting rare genetic changes early can be crucial for diagnosing diseases like cancer or genetic disorders before symptoms appear. By using cell-free DNA from bodily fluids, this method offers a less invasive way to get genetic information compared to traditional biopsies. This approach can potentially enable earlier intervention and more personalized treatments.
What does this patent NOT cover?
Does not cover methods that analyze DNA directly from cells, only cell-free polynucleotides.
Patent monitoring