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).
Claims22
A kit comprising 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 a test sample;
- wherein the test sample comprises a plurality of DNA fragments;
- wherein each adaptor of the set of adaptors is a DNA polynucleotide that comprises (i) an amplification region, (ii) a sample tag region;
- and (iii) an anchor region;
- and
- wherein each adaptor of the set of adaptors further comprises a unique molecule identifier multiplier (UMI multiplier) that increases the number of unique sequences for identifying the plurality of DNA fragments.
A DNA library, wherein the DNA library comprises a plurality of DNA library fragments, wherein each of the DNA library fragments comprises an adaptor and a DNA fragment,
- wherein the adaptor is a DNA polynucleotide comprising (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;
- wherein the anchor region comprises a polynucleotide sequence that is capable of attaching to a DNA fragment;
- and
- wherein each adaptor of the set of adaptors further comprises a unique molecule identifier multiplier (UMI multiplier) that increases the number of unique sequences for identifying the plurality of DNA library fragments.
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 a test sample;
- wherein each adaptor in said set of adapters is a DNA polynucleotide that comprises:
- an amplification region, a sample tag region, and 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;
- wherein the anchor region comprises a polynucleotide sequence that is capable of attaching to a DNA fragment;
- and
- wherein each adaptor of the set of adaptors further comprises a unique molecule identifier multiplier (UMI multiplier) that increases the number of unique sequences for identifying the plurality of DNA fragments.
Dependencies are inferred from the claim text.