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US 11,999,949 B2Granted
Methods for targeted genomic analysis
AssigneeResolution Bioscience, Inc.
InventorsChristopher K. Raymond, Christopher D. Armour, Lee P. Lim
Life of this patent
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Abstract
The invention provides a method for genetic analysis in individuals that reveals both the genetic sequences and chromosomal copy number of targeted and specific genomic loci in a single assay. The present invention further provide methods for the sensitive and specific detection of target gene sequences and gene expression profiles.
Claims28
A composition comprising:
- (1) a tagged genomic library comprising a plurality of DNA fragments, wherein each end of each DNA fragment is ligated to a multifunctional adaptor module comprising:
- (i) a first region comprising a random nucleic acid tag sequence;
- (ii) a second region comprising a sample code sequence;
- and
- (iii) a third region comprising a primer sequence;
- and
- (2) a multifunctional capture probe module comprising:
- (i) a first region capable of hybridizing to a partner oligonucleotide;
- and
- (ii) a second region capable of hybridizing to a specific target region in the tagged genomic library.
7 more elements
A complex comprising:
- (1) a single stranded tagged DNA molecule comprising a DNA fragment, wherein each end of the DNA fragment is ligated to a multifunctional adaptor module;
- and wherein the multifunctional adaptor module comprises:
- (i) a first region comprising a random nucleic acid tag sequence;
- (ii) a second region comprising a sample code sequence;
- and
- (iii) a third region comprising a primer sequence;
- and
- (2) a multifunctional capture probe module comprising:
- (i) a first region capable of hybridizing to a partner oligonucleotide;
- and
- (iii) a second region capable of hybridizing to a specific target region in the DNA fragment
- wherein the tagged DNA molecule is hybridized to the multifunctional capture probe module.
9 more elements
Dependencies are inferred from the claim text.