METHODS AND SYSTEMS FOR MONITORING HEALTH AND PATHOLOGY OF ORGANS Russian patent published in 2024 - IPC C12Q1/6809 C12Q1/6881 

FIELD: biotechnology.

SUBSTANCE: described is a method of analysing extracellular DNA (cfDNA) in a biological sample, comprising: obtaining a biological sample containing cfDNA; recovering cfDNA from said sample to obtain purified cfDNA, wherein said purified cfDNA comprises a plurality of cfDNA fragments, each of the fragments corresponding to a certain type of tissue or cells; quantitative assessment of said fragments of cfDNA to create a full genome profile of the number of cfDNA copies, where said whole genome copy number profile of cfDNA comprises a plurality of copy number signals, each corresponding to a fragment of cfDNA; and comparing said whole genome copy number profile of cfDNA with a set of known cfDNA signatures to determine cell damage, tissue damage or organ damage. Also described is a method for monitoring the development of a disease in a subject, involving: obtaining a biological sample from said subject, wherein said biological sample contains extracellular DNA (cfDNA); quantifying cfDNA in said sample to obtain a full genome profile of cfDNA containing a plurality of copy number signals, each corresponding to a fragment of cfDNA of a certain type of cell or tissue type; and comparing said plurality of cfDNA copy number signals with a set of known healthy subjects copy number signals, where the difference between the copy number signal in the sample and the known copy number signals correlates with the development of the disease in said subject. Disclosed is a method for monitoring the health of tissues and organs in a subject, involving: obtaining a biological sample from said subject, wherein said biological sample contains extracellular DNA (cfDNA); quantifying cfDNA in said sample to obtain a genome-wide cfDNA profile comprising a plurality of copy number signals, each of which corresponds to a fragment of cfDNA of a certain type of cells or type of tissue; and comparing said plurality of cfDNA copy number signals with a set of known healthy subjects copy number signals, where the difference between the signal of the number of copies in the sample and the known signals of the number of copies correlates with the change in the health of the organ in said subject.

EFFECT: invention enables to extract locus-specific copy number signals from extracellular DNA samples to identify tissue-specific copy number profiles of cfDNA and enables quantitative assessment of tissue portions in cfDNA samples.

33 cl, 5 dwg, 1 tbl, 3 ex