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

Claim 14:
15. A computer-implemented method of linking one of more modification(s) in the nucleic acid sequence of at least one nucleic acid in a sample of a subject to a specific cell type of the subject, comprising:
a) obtaining or providing at least one nucleic acid sequence of a nucleic acid and 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; and
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;
thereby linking the one or more modification(s) of the at least one nucleic acid sequence obtained in step b) to the specific cell type obtained in step c),
wherein step b) and step c) are carried out simultaneously.