Patent ID: 11920201
Assignee: SIEMENS HEALTHCARE LIMITED
Field: Biotechnology (Chemistry)
Classification: CPC C | IPC C

Claim 8:
9. A method of determining a malignant condition of a specific cell type in a subject, comprising:
a) sequencing at least one nucleic acid from a sample derived from a body fluid of the subject to obtain the nucleic acid sequence of said at least one nucleic acid and to obtain at least a part of an epigenetic profile of said at least one nucleic acid;
b) comparing said nucleic acid sequence to a first reference database comprising sequences of healthy genomes, cancer genomes, short genetic variations, or exomes, to obtain one or more modification(s) thereof that are indicative of a malignant condition;
c) comparing the at least part of the epigenetic profile of said at least one nucleic acid to a second reference database comprising a methylation database selected from the group consisting of MethyCancer; MethHC; Methylation and Expression database of Normal and Tumor tissues (MENT), MethylomeDB, NGSmethDB, DiseaseMeth, MethBase, The Cancer Genome Atlas (TCGA), and NIH Roadmap Epigenomics Mapping Consortium, to obtain a specific cell type associated with the at least part of the epigenetic profile; and
d) linking the one or more modification(s) of the at least one nucleic acid sequence that are indicative of a malignant condition obtained in step b) to the specific cell type obtained in step c);
wherein the sequencing of the at least one nucleic acid from the sample to obtain the nucleic acid sequence of said at least one nucleic acid and to obtain the at least part of an epigenetic profile of said at least one nucleic acid corresponding to a specific cell type is carried out using a method selected from nanopore sequencing, single-molecule based sequencing, tunneling based detection or combinations thereof, and
wherein step b) and step c) are carried out simultaneously.