Methods for the detection of genomic copy changes in DNA samples
AssigneeResolution Bioscience, Inc.
InventorsChristopher Raymond, Lee Lim, Jennifer Hernandez
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Abstract
The present invention includes compositions and methods useful for the detection of a mutational change, SNP, translocation, inversion, deletion, change in copy number, or other genetic variation within a sample of cellular genomic DNA or cell-free DNA (cfDNA). In some embodiments, the compositions and methods of the present invention provide an extremely high level of resolution that is particularly useful in detecting copy number variations in a small fraction of the total cfDNA from a biological sample (e.g., blood).
Claims56
A method for performing a genetic analysis on a DNA target region from a test sample comprising a plurality of genomic DNA fragments, the method comprising:
- (a) generating a genomic DNA library by contacting the test sample with a set of adaptors, wherein each adaptor of the set of adaptors comprises a sample tag region selected from a pool of unique sample tag regions, wherein the pool is selected from a plurality of pools, and wherein the selected pool is unique to the test sample;
- wherein the genomic DNA library comprises a plurality of library DNA fragments and at least two unique sample tag regions;
- wherein each of the library DNA fragments comprises a genomic DNA fragment from the test sample attached to an adaptor;
- (b) contacting the genomic DNA library with a plurality of capture probes that specifically bind to the DNA target region, thereby forming complexes between the capture probes and library DNA fragments comprising the DNA target region;
- and
- (c) performing a quantitative genetic analysis of the genomic DNA fragments comprising the DNA target region;
- wherein the adaptor is a DNA polynucleotide that comprises:
- (i) an amplification region, (ii) a sample tag region, and (iii) an anchor region;
- wherein the amplification region comprises a polynucleotide sequence capable of serving as a primer recognition site for PCR amplification;
- wherein the sample tag region identifies the test sample;
- and
- wherein the anchor region comprises a polynucleotide sequence that is capable of attaching to the genomic DNA fragment.
Dependencies are inferred from the claim text.