Abstract: The invention relates to the typing of MHC-DRB loci in mammals. In particular, the invention provides a typing procedure for the mammalian DRB region that allows an easy, economical, high resolution, fast and accurate haplotyping protocol. The invention further provides the use of said typing procedure in genetic applications, and provides a kit for typing of MHC-DRB loci.

Abstract: Biomarkers predictive of responsiveness to integrin beta7 antagonists, including anti-beta7 integrin subunit antibodies, and methods of using such biomarkers are provided. In addition, methods of treating gastrointestinal inflammatory disorders such as inflammatory bowel diseases including ulcerative colitis and Crohn's disease are provided. Also provided are methods of using such predictive biomarkers for the treatment of inflammatory bowel diseases including ulcerative colitis and Crohn's disease.

Abstract: An isolated nucleic acid molecule comprising a polymorphic site selected from the group consisting of positions 164, 269, 284, 407 and 989 of SEQ ID NO: 1, an array or a kit comprising the same. Also provided are a method for detecting single nucleotide polymorphism (SNP) in bovine proteinase inhibitor (PI) gene, a method for haplotyping a bovine cell, a method for progeny testing of cattle based on said haplotyping, a method for selectively breeding of cattle based on haplotyping a parent animal. The present invention further provides a method for testing a dairy cattle for its milk production trait, comprising haplotyping its cells, wherein a cattle having haplotypes 1, 3, 4 or 5 indicates that the cattle has desirable milk production trait. Haplotype 1 indicates that the cattle has the most desirable milk production trait.

Abstract: The present invention relates to a method for identifying the variety of a hop by using an identification marker comprising at least one single nucleotide polymorphism that differs among varieties, and a method for preparing said identification marker. The present invention also provides a primer or a probe to be used in the method for identifying the variety of a hop, and a nucleic acid of a region including said identification marker. The present invention further provides a method for detecting the intrusion of different varieties in a hop sample.

Abstract: Methods and composition are provided for diagnosing pediat?c onset asthma based on the single nucleotide polymorphism on chromosome 1q31 wherein said single nucleotide polymorphism is set forth in Table 2 or Table 6 of the instant invention Method and composition are also provided for treating and preventing asthma or other inflammatory conditions in a patient in need thereof comp?sing administering an effective amount of an at least one inhibitor which reduces the expression of DENND1 B gene product.

Abstract: Compositions and methods for the detection and treatment of autism and autistic spectrum disorder are provided.

Abstract: Compounds and methods for regulation of exonic splicing enhancers and exonic splicing silencers. Compounds include polynucleotides targeted to aberrant exonic splicing enhancers and exonic splicing silencers. Compounds and methods for the diagnosis of diseases and conditions associated with aberrant exonic splicing enhancers and exonic splicing silencers. Methods for identifying splicing-sensitive disease mutations, and functional RNA elements as targets for amelioration of aberrant pre-mRNA splicing.

Abstract: Embodiments of the present disclosure provide for methods, assays, and kits for predicting dosing for subjects. In addition, embodiments of the present disclosure include methods, assays, and kits, of determining if a patient can effectively metabolize one or both of phenylalanine and tryrosine.

Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.

Abstract: Mutations located within the gene encoding the homeobox transcription factor, ENGRAILED 2 (EN2), have now been identified as molecular markers associated with susceptibility for autism and related disorders. Thus, the present invention relates to compositions in the form of diagnostic kits, primers and target sequences, for use in methods for determining the predisposition, the onset or the presence of autism spectrum disorder in a mammal. Moreover, therapeutic methods for treating a person inflicted with, or predisposed to, an autism spectrum disorder based upon modulating the level or activity of EN2 are also provided.

Abstract: In some embodiments, a method to detect acute rejection in allograft from is described. In some embodiments, a method to anticipate an episode of acute rejection in allografts is also described. In some embodiments, a kit for detecting or predicting acute transplant rejection of a transplanted organ is described.

Abstract: Blood plasma of pregnant women contains fetal and (generally >90%) maternal circulatory extracellular DNA. Most of said fetal DNA contains ?500 base pairs, said maternal DNA having a greater size. Separation of circulatory extracellular DNA of <500 base pairs results in separation of fetal from maternal DNA. A fraction of a blood plasma or serum sample of a pregnant woman containing, due to size separation (e.g. by chromatography, density gradient centrifugation or nanotechnological methods), extracellular DNA substantially comprising ?500 base pairs is useful for non-invasive detection of fetal genetic traits (including the fetal RhD gene in pregnancies at risk for HDN; fetal Y chromosome-specific sequences in pregnancies at risk for X chromosome-linked disorders; chromosomal aberrations; hereditary Mendelian genetic disorders and corresponding genetic markers; and traits decisive for paternity determination) by e.g. PCR, ligand chain reaction or probe hybridization techniques, or nucleic acid arrays.

Abstract: A method is described for the detection of the degree of methylation of a specific cytosine in the sequence context 5?-CpG-3? of a genomic DNA sample. In the first step, the genomic DNA is chemically treated in such a way that the cytosine bases are converted to uracil, but not the 5-methylcytosine bases. Then segments of the genomic DNA which contain the said specific cytosine are amplified, whereby the amplified products are given a detectable label and in the following steps the extent of hybridization of the amplified products on two classes of oligonucleotides is determined by detection of the label of the amplified products, and a conclusion is made on the extent of methylation of said specific cytosine in the genomic DNA sample from the ratio of the labels detected on the two classes of oligonucleotides as a consequence of the hybridization.

Abstract: Provided herein are methods and systems pertaining to sequencing units of analytes using nanopores. In general, arresting constructs are used to modify an analyte such that the modified analyte pauses in the opening of a nanopore. During such a pause, an ion current level is obtained that corresponds to a unit of the analyte. After altering the modified analyte such that the modified analyte advances through the opening, another arresting construct again pauses the analyte, allowing for a second ion current level to be obtained that represents a second unit of the analyte. This process may be repeated until each unit of the analyte is sequenced. Systems for performing such methods are also disclosed.

Abstract: Blood plasma of pregnant women contains fetal and (generally >90%) maternal circulatory extracellular DNA. Most of said fetal DNA contains ?500 base pairs, said maternal DNA having a greater size. Separation of circulatory extracellular DNA of <500 base pairs results in separation of fetal from maternal DNA. A fraction of a blood plasma or serum sample of a pregnant woman containing, due to size separation (e.g. by chromatography, density gradient centrifugation or nanotechnological methods), extracellular DNA substantially comprising ?500 base pairs is useful for non-invasive detection of fetal genetic traits (including the fetal RhD gene in pregnancies at risk for HDN; fetal Y chromosome-specific sequences in pregnancies at risk for X chromosome-linked disorders; chromosomal aberrations; hereditary Mendelian genetic disorders and corresponding genetic markers; and traits decisive for paternity determination) by e.g. PCR, ligand chain reaction or probe hybridization techniques, or nucleic acid arrays.

Abstract: The present invention discloses uses of a HLA-B*1301 allele, comprising: 1) a use of a substance for detecting whether a person has the HLA-B*1301 allele in preparation of a product for evaluating a risk of adverse drug reactions in response to dapsone in the person; 2) a method for detecting or evaluating a risk of adverse drug reaction in response to dapsone in a person, comprising detecting whether the person has the HLA-B*1301 allele, wherein, a person with LA-B*1301 allele suffers a higher risk of adverse drug reaction upon being administered dapsone, as compared with a person without HLA-B*1301 allele, and a person with LA-B*1301 alleles at both chromosomes of a pair of homologous chromosomes suffers a higher risk of adverse drug reaction upon being administered dapsone, as compared with a person with HLA-B*1301 allele at only one of a pair of homologous chromosomes.

Abstract: The present invention provides a method of predicting the risk of a patient for developing adverse drug reactions, particularly SJS or TEN. It was discovered that an HLA-B allele, HLA-B* 1502, is associated with SJS/TEN that is induced by a variety of drugs. The correlation with HLA-B* 1502 is most significant for carbamazepine-induced SJS/TEN, wherein all the patients tested have the HLA-B* 1502 allele. In addition, another HLA-B allele, HLA-B*5801, is particularly associated with SJS/TEN induced by allopurinol. Milder cutaneous reactions, such as maculopapular rash, erythema multiforme (EM), urticaria, and fixed drug eruption, are particularly associated with a third allele, HLA-B *4601. For any of the alleles, genetic markers (e.g., HLA markers, microsatellite, or single nucleotide polymorphism markers) located between DRB1 and HLA-A region of the specific HLA-B haplotype can also be used for the test.

Abstract: Disclosed herein are novel assays, systems and kits for selecting a treatment regimen for a subject with depression by identifying at least one nucleic acid polymorphism, e.g., but not limited to, at the MTHFR, MTR, or MTRR locus, and/or determining expression levels of peripheral biomarkers (e.g., SAM, SAH, 4-HNE, and/or hsCRP) in a test sample from a human subject. These biomarkers can be used to determine the effectiveness of treating a depressed subject with a folate-containing compound (alone or as an adjunct to an antidepressant). Additionally, these biomarkers can be used to select an appropriate treatment regimen for subjects with treatment-resistant depression (e.g., resistant to at least one selective serotonin reuptake inhibitor). Methods and compositions for treating at least one symptom (e.g., at least one core symptom) of depression in a subject and/or determining or improving the effectiveness of an antidepressant drug taken by a subject are also provided herein.

Abstract: Disclosed herein are novel assays, systems and kits for selecting a treatment regimen for a subject with depression by identifying at least one nucleic acid polymorphism, e.g., but not limited to, at the MTHFR, MTR, or MTRR locus, and/or determining expression levels of peripheral biomarkers (e.g., SAM, SAH, and 4-HNE) in a test sample from a human subject. These biomarkers can be used to determine the effectiveness of treating a depressed subject with a folate-containing compound (alone or as an adjunct to an antidepressant). Additionally, these biomarkers can be used to select an appropriate treatment regimen for subjects with treatment-resistant depression (e.g., resistant to at least one selective serotonin reuptake inhibitor). Methods and compositions for treating a subject with depression and/or determining or improving the effectiveness of an antidepressant drug taken by a subject are also provided herein.

Abstract: The present invention is based, in part, on the identification of novel methods for defining predictive biomarkers of response to anti-cancer drugs.