Cancer detection and classification using methylome analysis
AssigneeUniversity Health Network
InventorsScott Victor Bratman, Justin Matthew Burgener, Daniel Diniz De Carvalho
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Abstract
This is described herein, a method of capturing cell-free methylated DNA from a sample having less than 100 mg of cell-free DNA, comprising the steps of: subjecting the sample to library preparation to permit subsequent sequencing of the cell-free methylated DNA; adding a first amount of filler DNA to the sample, wherein at least a portion of the filler DNA is methylated; denaturing the sample; and capturing cell-free methylated DNA using a binder selective for methylated polynucleotides.
Claims23
A method for determining whether a subject has or is at risk of having a disease, comprising:
- (a) providing a cell-free nucleic acid sample derived from a subject, wherein said cell-free nucleic acid sample comprises a plurality of nucleic acid molecules;
- (b) subjecting said plurality of nucleic acid molecules, or derivatives thereof, to sequencing to generate a plurality of sequencing reads;
- (c) computer processing said plurality of sequencing reads to identify, for said plurality of nucleic acid molecules, at least one profile, wherein said at least one profile comprises a methylation profile, wherein said methylation profile comprises a plurality of differentially methylated regions (DMRs) comprising a CpG density of at least 8 CpG dinucleotides per 300 base-pairs;
- and
- (d) using said at least one profile to determine whether said subject has or is at risk of having said disease.
Dependencies are inferred from the claim text.