ANALYSIS OF HETEROGENEOUS NUCLEIC ACID SAMPLES
First Claim
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1. A method of detecting an altered or mutant nucleic acid molecule that is present at low frequency in a biological sample comprisingisolating a threshold number of genome equivalents of a target nucleic acid of low genomic complexity from a biological sample;
- andanalyzing a statistically significant number of molecules of the isolated target nucleic acid using a technique useful for analyzing nucleic acid samples of high genomic complexity,wherein the analyzing provides information about the presence or absence of an altered or mutant nucleic acid molecule in the biological sample.
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Abstract
Methods for capturing and characterizing low frequency nucleic acid molecules indicative of diseases such as cancer (e.g. adenomas or early stage cancers) are provided. In some aspects, a low complexity capture technique is combined with a high complexity analytical technique. In some aspects, samples may be analyzed using a digital analysis and/or a single molecule sequencing technique.
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Citations
12 Claims
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1. A method of detecting an altered or mutant nucleic acid molecule that is present at low frequency in a biological sample comprising
isolating a threshold number of genome equivalents of a target nucleic acid of low genomic complexity from a biological sample; - and
analyzing a statistically significant number of molecules of the isolated target nucleic acid using a technique useful for analyzing nucleic acid samples of high genomic complexity, wherein the analyzing provides information about the presence or absence of an altered or mutant nucleic acid molecule in the biological sample. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
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Specification