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

Claim 0:
1. A method of linking one or more modification(s) of the nucleic acid sequence of at least one nucleic acid and at least one epigenetic alteration of said at least one nucleic acid in a sample of a subject to a specific cell type, 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;
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 obtained in step b) to the specific cell type of 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 any combination thereof, and
wherein step b) and step c) are carried out simultaneously.