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Omaha, NE, United States

Transgenomic, Inc. | Date: 2012-02-28

Methods and kits for sequencing a target DNA sequence in a sample having a related reference sequence are provided herein. In particular, kits and methods for sequencing cancer and cancer therapy associated mutations are described. Also provided are kits and methods for detecting mitochondrial mutations and for differentiating between closely related viral strains.

Transgenomic, Inc. | Date: 2014-01-10

The invention is based, at least in part, on the observation that the presence of particular biomarkers, e.g., particular mutations in any of the KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes as identified in Tables 1-5 (and, in particular, those identified with an asterisk), is associated with Long QT Syndrome (LQTS).

Transgenomic, Inc. | Date: 2013-03-15

Methods of using polymerase chain reactions to enrich a target sequence in a sample containing reference sequences and target sequences having high homology and amplifiable by the same primer pair are provided herein. In particular the methods provide a robust means to improve the fold enrichment of the target sequence and minimize reaction-to-reaction, well-to-well and run-to-run variations in the enrichment methods.

Agency: National Science Foundation | Branch: | Program: SBIR | Phase: Phase I | Award Amount: 99.35K | Year: 2009

This Small Business Innovation Research (SBIR) Phase I project develops a novel process allowing rapid and cost-effective analysis of genetic variation between test and known, control genomes. The method, known as SEAL, will allow researchers to construct DNA libraries containing only these variations. This would be a breakthrough in technology as whole genome sequencing produces vast amounts of redundant data representing the test genome?s regions that are identical to the control genome. Using current sequencing technologies this redundant data imposes high generation and analysis costs without contributing any new information. This project will demonstrate the method?s feasibility by developing robust bacterial genome analysis applications. Each step of the multi-staged method will be tested to find optimal conditions. Phase II aims will be developing more complex human genomic applications. The broader impacts of this research are on how DNA sequencing is performed and DNA variation is assessed. Research areas impacted include: pharmacogenomic assessment for personalized medicine diagnostics, notably in cancer treatment; simpler, less data-intensive methods to collect the genetic variation information required for understanding complex diseases, such as diabetes and cardiovascular disease, and tools for discovery of new antibiotics for drug-resistant pathogens. The commercial value will be a dramatic decrease in the cost and time of genome sequencing, identification of biomarkers associated with appropriate treatments and decreased requirements for very high cost sequencing equipment.

The present invention relates to a polymorphic MRP-1 polynucleotide, genes or vectors comprising the polynucleotides and a host cell genetically engineered with the polynucleotide or gene. Also provided are methods for producing molecular variant polypeptides, cells capable of expressing a molecular variant polypeptide and a polypeptide encoded by the polynucleotide or the gene or obtainable by the method or cells produced herein. Also provided is an antibody to the polypeptide, a transgenic animal, and a solid support comprising one or a plurality of the provided polynucleotides, genes, vectors, polypeptides, antibodies or host cells. Furthermore, methods of identifying a polymorphism, identifying and obtaining a pro-drug or drug or an inhibitor are also provided. In addition, the invention relates to methods for producing a pharmaceutical composition, diagnosing a disease and detection of the polynucleotide. Furthermore, provided herein are uses of the polynucleotides, genes, vectors, polypeptides or antibodies herein.

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