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US 8,148,078 B2Granted
Copy number variation determination, methods and systems
AssigneeFluidigm Corporation
InventorRamesh Ramakrishnan
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Abstract
The present invention methods and systems for determining copy number variation of a target polynucleotide in a genome of a subject including amplification based techniques. Methods can include pre-amplification of the sample followed by distribution of sample and a plurality of reaction volumes, quantitative detection of a target polynucleotide and a reference polynucleotide, and analysis so as to determine the relative copy number of the target polynucleotide sequence in the genome of the subject.
Claims18
A method for determining the relative copy number of a target polynucleotide sequence in a genome of a subject, comprising:
- pre-amplifying a target gene sequence and a reference gene sequence in a sample containing genomic DNA of the subject such that multiple copies of said target gene sequence that are linked together in the genome will be amplified separately;
- assaying the target gene sequence and the reference gene sequence of the preamplified sample by digital PCR;
- and
- determining a ratio of (a) to (b), where (a) is the number of amplified polynucleotide molecules containing the target gene sequence and (b) is the number of amplified polynucleotide molecules containing the reference gene sequence.
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Dependencies are inferred from the claim text.