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公开(公告)号：US20090099789A1
公开(公告)日：2009-04-16
申请号：US12239718
申请日：2008-09-26
IPC分类号： G06F19/00
摘要： The present disclosure provides methods and systems for assessing an individual's genotype correlations to a phenotype by analyzing the individual's genomic profile and using ancestral data to determine the correlations between genotypes and phenotypes.
摘要翻译： 本公开提供了通过分析个体的基因组谱并使用祖先数据来确定基因型和表型之间的相关性来评估个体与表型的基因型相关性的方法和系统。
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公开(公告)号：US20130013217A1
公开(公告)日：2013-01-10
申请号：US13611415
申请日：2012-09-12
IPC分类号： G06F19/10
摘要： The present disclosure provides methods and systems for assessing an individual's genotype correlations to a phenotype by analyzing the individual's genomic profile and using ancestral data to determine the correlations between genotypes and phenotypes.
摘要翻译： 本公开提供了通过分析个体的基因组谱并使用祖先数据来确定基因型和表型之间的相关性来评估个体与表型的基因型相关性的方法和系统。
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3.发明申请METHODS OF DIAGNOSING ALZHEIMER'S DISEASE AND MARKERS IDENTIFIED BY SET ASSOCIATION 审中-公开诊断阿尔茨海默病的方法和设定协会标识的标记公开(公告)号：US20090260092A1
公开(公告)日：2009-10-15
申请号：US12487608
申请日：2009-06-18
申请人： Dietrich A. STEPHAN , Eric M. Reiman , Jennifer Webster , Christopher B. Heward , Pamela Heward , Andreas Papassotiropoulos
发明人： Dietrich A. STEPHAN , Eric M. Reiman , Jennifer Webster , Christopher B. Heward , Pamela Heward , Andreas Papassotiropoulos
IPC分类号： A01K67/027 , C12Q1/68 , G01N33/53 , C40B30/04 , C07H21/04
CPC分类号： C12Q1/6883 , A61K31/7088 , A61K31/711 , A61K31/713 , C12N15/113 , C12N2310/14 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.
摘要翻译： 本公开涉及用于诊断和筛选迟发性阿尔茨海默氏病（LOAD）的遗传标记和方法。 因此，本公开内容包括其中数量位于GRB2相关结合蛋白2（GAB2）基因内的单核苷酸多态性（SNP）以及与其他基因相关的其他标志物的全基因组关联分析。 该公开内容鉴定了GAB2基因内的两种新型单体型，即LOAD风险增强型和LOAD风险降低型单元型。 这些单元型与APOE等位基因组合差异地修饰LOAD风险。 进一步包括降低与LOAD相关的细胞的恶化的治疗方法和试剂。
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