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

Claim 16:
17. A method for locating malignant disease in a subject, the method comprising:
a) obtaining (i) a sequence and (ii) at least a part of an epigenetic profile of at least one nucleic acid from a sample from the subject using nanopore sequencing, single-molecule based sequencing, tunneling based detection or combinations thereof;
b) detecting one or more sequence modification(s) in the at least one nucleic acid using a first reference database, wherein the first reference database comprises sequences of healthy genomes, cancer genomes, short genetic variations, or exomes;
c) detecting a specific cell type for the at least one nucleic acid using a second reference database, wherein the second reference database comprises 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; and
d) locating the malignant disease by linking the one or more sequence modification(s) detected in b) to the specific cell type detected in c),, wherein step b) and step c) are carried out simultaneously.