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US 11,142,802 B2Granted
Methods for using mosaicism in nucleic acids sampled distal to their origin
AssigneePersonalis, Inc.
InventorJohn West
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Abstract
Disclosed herein are methods for improving detection and monitoring of human diseases. The methods can be used to provide spatial and/or developmental localization of the source of each differential mutation within the body. The methods can also be used to generate a mutation map of a subject. And the mutation map can be used to monitoring state(s) of health of one or more tissues of a subject.
Claims31
A method for identifying at least one mosaic variant of a subject, comprising:
- (a) extracting (i) a first set of nucleic acid molecules from a cell-free portion of a blood sample of said subject and (ii) a second set of nucleic acid molecules from leukocytes in said blood sample of said subject;
- (b) independently sequencing nucleic acid molecules derived from said first set of nucleic acid molecules and said second set of nucleic acid molecules to obtain at least a first set of sequence reads and a second set of sequence reads, wherein said first set of sequence reads corresponds to said first set of nucleic acid molecules and said second set of sequence reads corresponds to said second set of nucleic acid molecules;
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- (c) using at least said first set of sequence reads and said second set of sequence reads to identify said at least one mosaic variant (1) in said first set of sequence reads that is not present in said second set of sequence reads or (2) in said second set of sequence reads that is not present in said first set of sequence reads.
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Dependencies are inferred from the claim text.