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Attorney: Wells; Sandra E.


Number of patents: 59
Last date: February 14, 2012

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NumberTitleIssue Date
8114978Methods for genotyping selected polymorphism
Methods for genotyping polymorphisms using a locus specific primer that is complementary to a region near a selected polymorphism are described. Methods for synthesizing pools of locus specific primers that incorporate some degenerate positions are also disclosed. A...
02/14/2012
8095323Polymorphism detection
The present invention generally provides a rapid efficient method for analyzing polymorphic or biallelic markers, and arrays for carrying out these analyses. In general, the methods of the present invention employ arrays of oligonucleotide probes that are complement...
01/10/2012
8084197Identification of molecular sequence signatures and methods involving the same
Novel means and methods for analyzing hybridization data derived from hybridization assays between a target nucleic acid and differently sequenced polynucleotide probes involve selecting probe sets that define reference sequences for sequence signatures and deriving...
12/27/2011
8055098System, method, and product for imaging probe arrays with small feature sizes
An embodiment of a method for resolving features on a probe array is described that, comprises acquiring a plurality of micro-shifted images of a region of a probe array; reconstructing an image of the probe array using the micro-shifted images; and deriving intensi...
11/08/2011
8029999Complexity management of genomic DNA
The presently claimed invention provides for novel methods and kits for analyzing a collection of target sequences in a nucleic acid sample. A sample is amplified under conditions that enrich for a subset of fragments that includes a collection of target sequences. ...
10/04/2011
8029997Methods of analysis of allelic imbalance
Methods are provided for identification of genes that are imprinted. In another embodiment methods are provided for identification and analysis of genes whose expression shows allelic imbalance. The expression products transcribed from genes that are present in the ...
10/04/2011
8009889Feature intensity reconstruction of biological probe array
The invention provides methods and systems for reconstructing feature intensities from pixel level data. In certain embodiments, the invention uses an empirically determined transfer function to construct a theoretical estimate of pixel level data and then iterative...
08/30/2011
7993883Complexity management of genomic DNA
The presently claimed invention provides for novel methods and kits for reducing the complexity of a nucleic acid sample by providing non-gel based methods for amplification of a subset of the sequences in a sample. In a preferred embodiment, amplification of a subs...
08/09/2011
7991564Methods for high throughput genotyping
Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for...
08/02/2011
7985547Capturing sequences adjacent to type-IIs restriction sites for genomic library mapping
The present invention relates to novel methods for sequencing and mapping genetic markers in polynucleotide sequences using Type-IIs restriction endonucleases. The methods herein described result in the “capturing” and determination of specific oligonucleotide s...
07/26/2011
7962291Methods and computer software for detecting splice variants
Methods and software products for analysis of alternative splicing are disclosed. In general the methods involve normalizing probe set or exon intensity to an expression level measurement of the gene. The methods may be used to identify tissue-specific alternative s...
06/14/2011
7881875Methods for selecting a collection of single nucleotide polymorphisms
The invention relates to the selection of a collection of relevant single nucleotide polymorphisms across a genome to design a nucleic acid probe array. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine,...
02/01/2011
7846659Arrays of nucleic acid probes for analyzing biotransformation genes
The invention provides arrays of immobilized probes, and methods employing the arrays, for detecting mutations in the biotransformation genes, such as cytochromes P450. For example, one such array comprises four probe sets. A first probe set comprises a plurality of...
12/07/2010
7862999Multiplex targeted amplification using flap nuclease
Methods for multiplex amplification of a plurality of targets of distinct sequence from a complex mixture are disclosed. In one aspect targets are circularized using a single circularization probe that is complementary to two regions in the target that flank a regio...
01/04/2011
7824863Nucleic acid labeling methods
In one aspect of the invention, a method is provided for end-labeling RNA (total RNA, mRNA, cRNA or fragmented RNA). In one aspect of the present invention, T4 RNA ligase is used to attach a 3′-labeled AMP or CMP donor to an RNA acceptor molecule. In another embod...
11/02/2010
7822555Methods for identifying DNA copy number changes
Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequ...
10/26/2010
7794943Modified nucleic acid probes
Oligonucleotide analogue arrays attached to solid substrates and methods related to the use thereof are provided. The oligonucleotide analogues hybridize to nucleic acids with either higher or lower specificity than corresponding unmodified oligonucleotides. Target ...
09/14/2010
7754451Multiplex oligonucleotide addition and target amplification
Methods for appending oligonucleotides directly to nucleic acid templates, particularly to defined sites internal to single-stranded templates, are described. Appending first and second common priming sites to each of a plurality of templates of distinct sequence al...
07/13/2010
7745178Complexity management of genomic DNA
The presently claimed invention provides for novel methods and kits for reducing the complexity of a nucleic acid sample by providing non-gel based methods for amplification of a subset of the sequences in a sample. In a preferred embodiment, amplification of a subs...
06/29/2010
7662559Capturing sequences adjacent to type-IIS restriction sites for genomic library mapping
The present invention relates to novel methods for sequencing and mapping genetic markers in polynucleotide sequences using Type-IIs restriction endonucleases. The methods herein described result in the “capturing” and determination of specific oligonucleotide s...
02/16/2010
7634363Methods for high throughput genotyping
Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for...
12/15/2009
7632640Association of TSPYL polymorphisms with SIDDT syndrome
The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment...
12/15/2009
7629164Methods for genotyping polymorphisms in humans
The invention provides nucleic acid sequences that are complementary, in one embodiment, to a collection of human single nucleotide polymorphisms. The invention provides the sequences in such a way as to make them available for a variety of analyses including genoty...
12/08/2009
7510829Multiplex PCR
Compositions and methods for nucleic acid amplification are provided that minimize the formation and amplification of spurious products, particularly in multiplex amplification reactions. Linear amplification molecules are provided. A first embodiment comprises a fi...
03/31/2009
7504215Nucleic acid labeling methods
In one aspect of the invention, a method is provided for end-labeling RNA (total RNA, mRNA, cRNA or fragmented RNA). In one aspect of the present invention, T4 RNA ligase is used to attach a 3′-labeled AMP or CMP donor to an RNA acceptor molecule. In another embod...
03/17/2009
7491818Nucleic acid labeling compounds
Nucleic acid labeling compounds containing heterocyclic derivatives are disclosed. The heterocyclic derivative containing compounds are synthesized by condensing a heterocyclic derivative with a cyclic group (e.g. a ribofuranose derivative). The labeling compounds a...
02/17/2009
7459273Methods for genotyping selected polymorphism
Methods for genotyping polymorphisms using a locus specific primer that is complementary to a region near a selected polymorphism are described. Methods for synthesizing pools of locus specific primers that incorporate some degenerate positions are also disclosed. A...
12/02/2008
7459275Sequencing of surface immobilized polymers utilizing microfluorescence detection
Means for simultaneous parallel sequence analysis of a large number of biological polymer macromolecules. Apparatus and methods may use fluorescent labels in repetitive chemistry to determine terminal monomers on solid phase immobilized polymers. Reagents which spec...
12/02/2008
7452671Methods for genotyping with selective adaptor ligation
The present invention provides methods for reducing the complexity of a nucleic acid sample to interrogate a collection of target sequences. Complexity reduction can be accomplished by fragmenting the nucleic acid sample with a restriction enzyme that has at least o...
11/18/2008
7424368Methods for identifying DNA copy number changes
Methods of estimating genomic DNA copy number are disclosed. Amplified genomic DNA is hybridized to an array of allele specific SNP probes to generate a hybridization pattern. A value, S, is calculated for individual SNPs in the experimental sample, where S is the l...
09/09/2008
7374927Methods of analysis of degraded nucleic acid samples
The invention provides arrays for analysis of compromised nucleic acid samples, for example, nucleic acids obtained from formalin fixed paraffin embedded samples and methods to analyzed these compromised samples. Arrays are disclosed in which the probe selection reg...
05/20/2008
7368242Method and kits for multiplex hybridization assays
The invention provides a method for genotyping interfering polymorphic loci in a target polynucleotide, such as a strand of genomic DNA, in a multiplex hybridization-based assay. The invention also provides nucleic acid standards for validating the performance of su...
05/06/2008
7361468Methods for genotyping polymorphisms in humans
Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genoty...
04/22/2008
7341835Methods of analysis of alternative splicing in mouse
The invention provides nucleic acid sequences which are complementary, in one embodiment, to a wide variety of mouse genes. The invention provides the sequences in such a way as to make them available for a variety of analyses. In one embodiment the nucleic acid seq...
03/11/2008
7339049Polymorphisms in human mitochondrial DNA
The invention provides novel human mitochondrial polymorphisms, and probes and primers for detecting the same. Detection of such polymorphisms is useful in a variety of fields such as forensic analysis, epidemiology and preventive medicine. ...
03/04/2008
7323308Methods of genetic analysis of
The invention provides nucleic acid sequences which are complementary, in one embodiment, to a wide variety of E. coli genes. The invention provides the sequences in such a way as to make them available for a variety of analyses. In one embodiment the nucleic...
01/29/2008
7314714Method of oligonucleotide synthesis
Methods and kits for synthesizing a plurality of oligonucleotides are provided. Methods for providing a plurality of oligonucleotides enriched for full length oligonucleotides are provided. Truncated oligonucleotides are preferentially removed from the sample by dig...
01/01/2008
7314750Addressable oligonucleotide array of the rat genome
The invention provides nucleic acid sequences which are complementary, in one embodiment, to a wide variety of Rat genes. The invention provides the sequences in such a way as to make them available for a variety of analyses. In one embodiment the nucleic acid seque...
01/01/2008
7312035Methods of genetic analysis of yeast
Arrays of oligonucleotide probes which are complementary to a plurality of S. cerevisisae and S. pombe genes are disclosed. The arrays may be used to measure the expression levels of a plurality of genes simultaneously. ...
12/25/2007
7300788Method for genotyping polymorphisms in humans
The invention provides nucleic acid sequences that are complementary, in one embodiment, to a wide variety of human polymorphisms. The invention provides the sequences in such a way as to make them available for a variety of analyses including genotyping a large num...
11/27/2007
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