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US 2026/0308685 A1Published application
Highly sensitive method for detecting cancer dna in a sample
AssigneeInivata Ltd.
InventorsMalcolm PERRY, Giovanni MARSICO, Robert OSBORNE, Nitzan ROSENFELD, Tim FORSHEW
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Abstract
Methods and systems disclosed herein relate to detecting a presence or an absence of a second primary disease in a subject. The methods may comprise performing a workflow comprising a minimal residual disease (MRD) assay on a biological sample and using a result of the workflow to detect a presence or absence of a second primary disease in the subject.
Claims32
A method comprising:
- (a) obtaining a biological sample of a subject;
- (b) extracting one or more nucleic acid molecules from the biological sample of the subject, wherein the one or more nucleic acid molecules comprise deoxyribonucleic acid (DNA) molecules;
- (c) dividing the DNA molecules or derivatives thereof into at least two sample aliquots;
- (d) determining a concentration of the DNA molecules or derivatives thereof in an aliquot of the at least two sample aliquots, such that a single DNA molecule of the DNA molecules or derivatives thereof generates a signal distinguishable from a signal threshold when the single DNA molecule comprises a genetic variant, wherein the signal threshold corresponds to a background error rate for the at least two sample aliquots;
- (e) modifying a quantity of molecules in an aliquot of the at least two sample aliquots based at least in part on the concentration determined in (d);
- and
- (f) performing an amplification reaction on at least a subset of the DNA molecules or derivatives thereof in the at least two sample aliquots, thereby generating a sequencing library comprising at least two enriched sample aliquots.
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Dependencies are inferred from the claim text.