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    • 7. 发明申请
    • Algorithm for estimating and testing association between a haplotype and quantitative phenotype
    • 用于估计和测试单体型与定量表型之间关联的算法
    • US20050177316A1
    • 2005-08-11
    • US10944821
    • 2004-09-21
    • Naoyuki KamataniToshikazu ItoYutaka Kitamura
    • Naoyuki KamataniToshikazu ItoYutaka Kitamura
    • G01N33/48G01N33/50G06F19/00G06F19/18
    • G16B20/00G16B40/00
    • A method of estimating, in addition to haplotype frequencies and diplotype configurations, a means and a standard deviation determining a distribution of a quantitative phenotype by the diplotype on the basis of data on observed genotypes and phenotype data taking a continuous value. The method includes a step a of calculating the maximum likelihood (L0max) on the basis of genotype data and phenotype data taking a continuous value by using as parameters haplotype frequencies and a means and a standard deviation determining a distribution of a quantitative phenotype, under the hypothesis that there is no association between a diplotype configuration including a predetermined haplotype and a predetermined phenotype, and maximum likelihood estimates and the maximum likelihood (Lmax) of haplotype frequencies and penetration rate obtained by maximizing the likelihood under the hypothesis that there is an association between the diplotype configuration including the predetermined haplotype and the phenotype distribution taking a continuous value, and a step b of obtaining the means and the standard deviation determining a distribution of a quantitative phenotype from the maximum likelihood estimates obtained in the step a.
    • 除了单体型频率和外型配置之外,还根据观察到的基因型和表型数据的数据采用连续值来估计通过外型确定定量表型的分布的方法和标准偏差。 该方法包括基于基因型数据和使用作为参数单倍型频率的连续值的表型数据来计算最大可能性(L max max)的步骤a和确定a 在包括预定单倍型和预定表型的外形型配置与最大似然估计和单倍型频率的最大似然(L max max)之间没有关联的假设下,定量表型的分布和 通过使包含预定单倍型的外形类型配置与取连续值的表型分布之间存在关联的假设来最大化可能性所获得的穿透率,以及获得均值和标准偏差的步骤b,该步骤确定定量 从步骤a中获得的最大似然估计的表型。
    • 9. 发明申请
    • Method of specifying snp
    • 指定snp的方法
    • US20050069891A1
    • 2005-03-31
    • US10501647
    • 2003-01-15
    • Toshiaki SusukiNaoyuki KamataniJunji Tanaka
    • Toshiaki SusukiNaoyuki KamataniJunji Tanaka
    • C12N15/09C12Q1/68
    • G16B20/00
    • The present invention is intended to provide a technique relating to a method of specifying an SNP which comprises repeating presumption of an SNP serving as a marker and detailed typing of SNPs around the same, thus gradually narrowing down the focus to the base sequence domain in which the ‘target’ SNP is likely contained and finally specifying the ‘target’ SNP at a high efficiency. As FIG. 1 shows, the method of specifying an SNP comprises: (1) determining a drug to be developed which is the subject of the determination; (2) collecting samples to be analyzed; (3) determining a ‘scanning domain (base sequence domain)’; (4) determining ‘typing’ SNPs; (5) SNP typing by the wet process and analyzing haplotypes based on the typing data; (6) presuming a ‘marker’ SNP (determining the analytical data); and (7) specifying the ‘target’ SNP (target SNP). A cycle consisting of the stage (1) to (7) is repeated as a treatment cycle.
    • 本发明旨在提供一种涉及一种指定SNP的方法的技术,其包括重复将SNP作为标记的推测,并且在其周围的SNP的详细分型,从而逐渐将焦点缩小到碱基序列区,其中 “目标”SNP可能包含在内,最终以高效率指定“目标”SNP。 如图。 如图1所示,指定SNP的方法包括:(1)确定作为确定对象的待开发药物; (2)收集待分析样品; (3)确定“扫描域(碱基序列域)”; (4)确定“打字”SNP; (5)通过湿法进行SNP分型,并根据分型数据分析单体型; (6)假设“标记”SNP(确定分析数据); 和(7)指定“目标”SNP(目标SNP)。 重复由阶段(1)至(7)组成的周期作为治疗周期。
    • 10. 发明申请
    • Method of estimating a penetrance and evaluating a relationship between diplotype configuration and phenotype using genotype data and phenotype data
    • 使用基因型数据和表型数据估计外显率和评估外型配置与表型之间关系的方法
    • US20050050129A1
    • 2005-03-03
    • US10840645
    • 2004-05-07
    • Naoyuki KamataniToshikazu Ito
    • Naoyuki KamataniToshikazu Ito
    • G01N33/48C12N15/09G06F17/15
    • G16B20/00
    • A method of simultaneously estimating a diplotype-based penetrance as well as haplotype frequencies and diplotype configurations on the basis of observed genotype and phenotype data. The method includes a step a of calculating, on the basis of genotype data and phenotype data with haplotype frequencies and penetrance used as parameters, the maximum likelihood (L0max) obtained by maximizing likelihood under the hypothesis that there is no association between predetermined diplotype configurations and a predetermined phenotype, the maximum likelihood estimates of haplotype frequencies and penetrances, the maximum likelihood (Lmax) obtained by maximizing likelihood under the hypothesis that there is an association between the predetermined diplotype configurations and the predetermined phenotype; and a step b of calculating the penetrance from the maximum likelihood estimate obtained in said step a.
    • 基于观察到的基因型和表型数据,同时估计基于外文型的外显率以及单倍型频率和外来型配置的方法。 该方法包括基于具有单倍型频率和用作参数的外显率的基因型数据和表型数据计算最大可能性(L0max),该最大似然(L0max)是通过在预定的外形类型配置之间没有关联的假设下最大化可能性而得到的 预定表型,单倍型频率和外显率的最大似然估计,在预定外型配置与预定表型之间存在关联的假设下通过使可能性最大化而获得的最大似然(Lmax); 以及从所述步骤a中获得的最大似然估计计算外显率的步骤b。