Polymorphisms Associated With Age-Related Macular Degeneration and Methods for Evaluating Patient Risk
    62.
    发明申请
    Polymorphisms Associated With Age-Related Macular Degeneration and Methods for Evaluating Patient Risk 审中-公开
    与年龄相关性黄斑变性相关的多态性和评估患者风险的方法

    公开(公告)号:US20160102353A1

    公开(公告)日:2016-04-14

    申请号:US14721417

    申请日:2015-05-26

    IPC分类号: C12Q1/68

    摘要: The present invention provides for certain polynucleotide sequences that have been correlated to AMD. These polynucleotides are useful as diagnostics, and are preferably used to fabricate an array, useful for screening patient samples. The array is used as part of a laboratory information management system, to store and process additional patient information in addition to the patient's genomic profile. As described herein, the system provides an assessment of the patient's risk for developing AMD, risk for disease progression, and the likelihood of disease prevention based on patient controllable factors.

    摘要翻译: 本发明提供了与AMD相关的某些多核苷酸序列。 这些多核苷酸可用作诊断,并且优选用于制备用于筛选患者样品的阵列。 该阵列用作实验室信息管理系统的一部分,用于存储和处理除患者基因组谱外的其他患者信息。 如本文所述,系统提供对患者开发AMD的风险,疾病进展风险以及基于患者可控因素的预防疾病的可能性的评估。

    VARIANTS OF TNFSF15 AND DCR3 ASSOCIATED WITH CROHN'S DISEASE
    63.
    发明申请
    VARIANTS OF TNFSF15 AND DCR3 ASSOCIATED WITH CROHN'S DISEASE 审中-公开
    与CROHN病相关的TNFSF15和DCR3的变异

    公开(公告)号:US20160090629A1

    公开(公告)日:2016-03-31

    申请号:US14890712

    申请日:2014-05-16

    IPC分类号: C12Q1/68

    摘要: Described herein are methods and compositions related to the discovery of associations in TNFSF15 15 and DcR3 genetic loci across in Caucasian, Puerto Rican, and Korean Crohn's Disease, as demonstrated via trans-ethnic fine mapping. The present invention provides methods of quantifying risk and diagnosing susceptibility to Crohn's disease in a subject by determining the presence of one or more risk variants are at the TNFSF15 (or TL1A) and/or DcR3 genetic loci.

    摘要翻译: 本文描述的是与在白种人,波多黎各和韩国克罗恩病中跨越的TNFSF1515和DcR3遗传基因座中发现关联有关的方法和组合,如通过跨种族精细定位证明的。 本发明提供了通过确定在TNFSF15(或TL1A)和/或DcR3遗传基因座中存在一种或多种风险变体来量化风险并诊断受试者对克罗恩病易感性的方法。

    PREDICTING AND REDUCING ALLOIMMUNOGENICITY OF PROTEIN THERAPEUTICS
    64.
    发明申请
    PREDICTING AND REDUCING ALLOIMMUNOGENICITY OF PROTEIN THERAPEUTICS 审中-公开
    预测和降低蛋白质治疗的ALLOIMMUNOGENICITY

    公开(公告)号:US20160038570A1

    公开(公告)日:2016-02-11

    申请号:US14868327

    申请日:2015-09-28

    申请人: HAPLOMICS, INC.

    发明人: Tommy E. HOWARD

    摘要: Methods of predicting the immunogenicity of a therapeutic protein in a subject are provided and the use of this method in selecting a protein for replacement therapy having the fewest immunogenic epitopes. The method is demonstrated by reference to ADAMTS13. Isolated allelic variants of ADAMTS13 that contribute to the variability in risk for both arterial and venous thrombotic disease development are provided. The allelic variants are identified as single nucleotide polymorphisms (ns-SNPs) in the ADAMTS13 gene, which result in haplotypes identified as H1 to H14. A method for improving outcomes of transfusions/transplant products is also provided by selection of haplotype matched therapeutics.

    摘要翻译: 提供预测受试者中治疗性蛋白质的免疫原性的方法,以及该方法在选择具有最少免疫原性表位的替代疗法的蛋白质中的应用。 该方法通过参考ADAMTS13来证明。 提供了有助于动脉和静脉血栓形成疾病发展的风险变异性的ADAMTS13的分离的等位基因变体。 等位基因变体被鉴定为ADAMTS13基因中的单核苷酸多态性(ns-SNP),其导致鉴定为H1至H14的单元型。 通过选择单倍型匹配的治疗方法也提供了改善输血/移植产物结局的方法。

    GENETIC POLYMORPHISMS ASSOCIATED WITH LIVER FIBROSIS, METHODS OF DETECTION AND USES THEREOF
    65.
    发明申请
    GENETIC POLYMORPHISMS ASSOCIATED WITH LIVER FIBROSIS, METHODS OF DETECTION AND USES THEREOF 审中-公开
    与肝纤维化相关的遗传多态性,检测方法及其用途

    公开(公告)号:US20160032388A1

    公开(公告)日:2016-02-04

    申请号:US14797998

    申请日:2015-07-13

    IPC分类号: C12Q1/68

    摘要: The present invention is based on the discovery of genetic polymorphisms that are associated with liver fibrosis and related pathologies. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

    摘要翻译: 本发明基于与肝纤维化和相关病理学相关的遗传多态性的发现。 特别地,本发明涉及含有多态性的核酸分子,由该核酸分子编码的变体蛋白,用于检测多态核酸分子和蛋白质的试剂,以及使用该核酸和蛋白质的方法以及使用的方法 用于检测的试剂。

    Hair shape susceptibility gene
    67.
    发明授权
    Hair shape susceptibility gene 有权
    头发形状易感基因

    公开(公告)号:US09243285B2

    公开(公告)日:2016-01-26

    申请号:US13500442

    申请日:2010-10-05

    IPC分类号: C12Q1/68 G01N33/68

    摘要: A genetic polymorphism and a hair shape susceptibility gene that are related to hair shape, and a method for determining the genetic susceptibility to hair shape in individual test subjects are provided. Disclosed is a hair shape susceptibility gene, which overlaps with a haplotype block in the 1q32.1 to 1q32.2 region (D1S249 to D1S2891) of human chromosome 1 and comprises a portion or the entirety of the base sequence of the haplotype block, wherein the haplotype block is determined by a linkage disequilibrium analysis conducted on a single nucleotide polymorphism (SNP) marker whose allele frequency differs statistically significantly between a group having a curly hair trait and a group having a non-curly hair trait, and consists of a base sequence set forth in any one of SEQ ID NO:1 to NO:3.

    摘要翻译: 提供了与头发形状相关的遗传多态性和毛发形状易感基因,以及用于确定个体测试对象中毛发形状的遗传易感性的方法。 公开了一种与人染色体1的1q32.1至1q32.2区域(D1S249至D1S2891)中的单元区块重叠的毛发易感基因,并且包含单体型块的碱基序列的一部分或全部,其中 通过在单核苷酸多态性(SNP)标记上进行的连锁不平衡分析确定单体型区段,其中等位基因频率在具有卷曲性状的群体和具有非卷曲性状的群体之间在统计学上显着不同,并且由碱基 SEQ ID NO:1至NO:3中任一项所述的序列。

    Methods and systems for inferring bovine traits
    70.
    发明授权
    Methods and systems for inferring bovine traits 有权
    推测牛性状的方法和系统

    公开(公告)号:US09206478B2

    公开(公告)日:2015-12-08

    申请号:US13870384

    申请日:2013-04-25

    IPC分类号: C12Q1/68

    摘要: Methods, compositions, and systems are provided for managing bovine subjects in order to maximize their individual potential performance and edible meat value, and to maximize profits obtained in marketing the bovine subjects. The methods and systems draw an inference of a trait of a bovine subject by determining the nucleotide occurrence of at least one bovine SNP that is identified herein as being associated with the trait. The inference is used in methods of the present invention to establish the economic value of a bovine subject, to improve profits related to selling beef from a bovine subject; to manage bovine subjects, to sort bovine subjects; to improve the genetics of a bovine population by selecting and breeding of bovine subjects, to clone a bovine subject with a specific trait, to track meat or another commercial product of a bovine subject; and to diagnose a health condition of a bovine subject. Methods are also disclosed for identifying additional SNPs associated with a trait, by using the associated SNPs identified herein.

    摘要翻译: 提供方法,组成和系统用于管理牛科目,以最大限度地发挥其个人潜在的表现和可食用的肉类价值,并最大限度地利用牛市场营销中获得的利润。 方法和系统通过确定本文鉴定为与性状相关联的至少一种牛SNP的核苷酸发生来引出牛受试者的性状的推断。 推论用于本发明的方法,以建立牛科目的经济价值,以提高从牛科学家出售牛肉的利润; 管理牛科目,分类牛科目; 通过选择和育种牛科目以克隆具有特定性状的牛受试者来追踪牛或其他商品的牛群体来改善牛种群的遗传学; 并诊断牛受试者的健康状况。 还公开了通过使用本文鉴定的相关SNP来鉴定与性状相关的另外的SNP的方法。