Single-molecule sequence and high sensitivity methylation analysis for tissue-specific analysis
AssigneeSiemens Healthcare GmbH
InventorsCarsten DIETRICH, Andreas Emanuel POSCH
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Abstract
The present invention relates to methods of determining 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, wherein the sample is derived from a body fluid of the subject, in order to link the one or more modification to a specific cell type.
Claims21
A method of determining 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, wherein the sample is derived from a body fluid of the subject, comprising:
- a) obtaining or providing a sample from the subject comprising at least one nucleic acid;
- b) sequencing the at least one nucleic acid from the sample to obtain the nucleic acid sequence of said at least one nucleic acid, and determining at least a part of the epigenetic profile of said at least one nucleic acid;
- c) comparing said nucleic acid sequence to a first reference database to determine one or more modification(s) thereof;
- d) comparing the at least part of the epigenetic profile of said at least one nucleic acid to a second reference database to correlate said at least one nucleic acid to a specific cell type;
- and
- e) linking the one or more modification(s) of the at least one nucleic acid sequence to the specific cell type.
A method of determining a malignant condition of a specific cell type in a subject, comprising:
- a) obtaining or providing a sample from the subject comprising at least one nucleic acid;
- b) sequencing the at least one nucleic acid from the sample to obtain the nucleic acid sequence of said at least one nucleic acid, and determining at least a part of the epigenetic profile of said at least one nucleic acid;
- c) comparing said nucleic acid sequence to a first reference database to determine one or more modification(s) thereof that are indicative of a malignant condition;
- d) comparing the at least part of the epigenetic profile of said at least one nucleic acid to a second reference database to correlate said at least one nucleic acid to a specific cell type;
- and
- e) linking the one or more modification(s) of the at least one nucleic acid sequence that are indicative of a malignant condition to the specific cell type.
A method of linking one of more modification(s) of at least one nucleic acid sequence 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 the epigenetic profile of said at least one nucleic acid;
- b) comparing said nucleic acid sequence to a first reference database to determine 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 to correlate said at least one nucleic acid to a specific cell type;
- and
- d) linking the one or more modification(s) of the at least one nucleic acid sequence to the specific cell type.
(canceled)
An apparatus, comprising a processor and a memory, the apparatus further comprising computer-executable instructions stored in the memory which, when executed by the processor, cause the apparatus to:
- a) obtain a nucleic acid sequence of a nucleic acid, the nucleic acid being in a sample of a subject;
- b) obtain at least a part of an epigenetic profile, the epigenetic profile being of the nucleic acid;
- c) determine one or more modifications, the modifications being of the nucleic acid sequence, by comparing the nucleic acid sequence to a first reference database of the subject;
- d) correlate the nucleic acid to a specific cell type, the specific cell type being a cell type of the subject, by comparing the at least part of the epigenetic profile to a second reference database;
- and
- e) create a record, the record linking the one or more modifications to the specific cell type.
A method performed by an apparatus, comprising:
- a) obtaining a nucleic acid sequence of a nucleic acid, the nucleic acid being in a sample of a subject;
- b) obtaining at least a part of an epigenetic profile, the epigenetic profile being of the nucleic acid;
- c) determining one or more modifications, the modifications being of the nucleic acid sequence, by comparing the nucleic acid sequence to a first reference database of the subject;
- d) correlating the nucleic acid to a specific cell type, the specific cell type being a cell type of the subject, by comparing the at least part of the epigenetic profile to a second reference database;
- and
- e) creating a record, the record linking the one or more modifications to the specific cell type.
Dependencies are inferred from the claim text.