{
  "patent_number": "US 12735751",
  "country": "US",
  "title": "Finding Rare Genetic Changes in Blood Using DNA Fragments",
  "original_title": "Systems and methods to detect rare mutations and copy number variation",
  "summary": "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.",
  "what_it_does": "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.",
  "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."
  ],
  "filed": "2025-10-17",
  "granted": "2026-09-15",
  "expires": null,
  "status": "active",
  "holder": null,
  "holder_url": null,
  "inventors": [],
  "times_cited": 0,
  "tags": [
    "biotech",
    "diagnostics",
    "software",
    "telecommunications"
  ],
  "abstract": "The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.",
  "url": "https://patentbrief.org/patent/us/12735751/systems-and-methods-to-detect-rare-mutations-and-copy-number-variation",
  "markdown_url": "https://patentbrief.org/patent/us/12735751/systems-and-methods-to-detect-rare-mutations-and-copy-number-variation/md",
  "google_patents_url": "https://patents.google.com/patent/US12735751",
  "relatedPatents": []
}