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US 2021/0062276 A1Published application
Methods for using mosaicism in nucleic acids sampled distal to their origin
AssigneePersonalis, Inc.
InventorJohn West
Life of this patent
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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.
Claims23
-9. (canceled)
A method for identifying one or more variants in a tissue sample from a subject, comprising:
- (a) obtaining a plasma sample and said tissue sample from said subject, wherein said plasma sample comprises cell-free nucleic acid molecules;
- (b) extracting nucleic acid molecules from said plasma sample and said tissue sample, wherein said extracted nucleic acid molecules comprise at least a subset of said cell-free nucleic acid molecules of said plasma sample;
- (c) independently sequencing extracted nucleic acid molecules from said plasma sample and said tissue sample to generate a set of sequence reads, wherein said set of sequence reads comprise sequences derived from said at least a subset of cell-free nucleic acid molecules and sequences derived from said tissue sample;
- and
- (d) subsequent to (c), identifying said one or more variants in said sequences derived from said tissue sample, wherein said sequences derived from said cell-free nucleic acid molecules are a normal, and wherein said one or more variants are identified by processing said sequences derived from said tissue sample against said normal.
2 more elements
Dependencies are inferred from the claim text.