摘要:
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.
摘要翻译: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。
摘要:
Multi-dimensional scaling is used to solve characteristic polynomials of similarity matrixes, in order to determine a minimal-number SNP set (htSNPs (haplotype-tagging SNPS)) for identifying an arbitrary number of haplotypes in blocks with strong linkage disequilibrium. Thus, unnecessary SNP typing in blocks with strong linkage disequilibrium can be avoided.
摘要:
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.
摘要:
An EM algorithm and a graph structure are combined so that all haplotype information to be assumed is kept, thus changing a problem into one for searching for a complete graph having a maximum score for haplotype estimation.
摘要:
A liquid leakage detection system requiring no power supply from an outer source and configured to be relatively simple and moderate in price. A liquid leakage detection system (10) including an infusion tube (11), a syringe needle (12) coupled to the infusion tube (11), an absorbent element (16) adapted to be placed in the vicinity of a point (12a) of the syringe needle (12) to be pricked through a patient skin and a sensor unit (14) located on an upper side or within the absorbent element (16).
摘要:
Evaluation methods for evaluating susceptibility to multifactorial diseases in sexual differentiation disorders, human estrogen receptor alpha (α) genes carrying single nucleotide polymorphisms (SNPs) associated with the multifactorial diseases, DNAs containing the nucleotides at the SNPs, and diagnostic markers containing the DNAs are provided. Susceptibility to the multifactorial diseases can be evaluated by examining at least one of SNPs 8 to 14, or SNPs 10 to 14, in a human estrogen receptor α gene, and more precisely evaluated by examining a diplotype encompassing SNPs 10 to 14.
摘要:
A liquid leakage detection system requiring no power supply from an outer source and configured to be relatively simple and moderate in price. A liquid leakage detection system (10) including an infusion tube (11), a syringe needle (12) coupled to the infusion tube (11), an absorbent element (16) adapted to be placed in the vicinity of a point (12a) of the syringe needle (12) to be pricked through a patient skin and a sensor unit (14) located on an upper side or within the absorbent element (16).
摘要:
Problems: Provided are a test method of determining an effective dose of methotrexate in each patient and a method for treatment of rheumatoid arthritis.Means to Solve the Problems: There is obtained a test method of an A1298C polymorphism in MTHFR gene in a patient suffering from rheumatoid arthritis, the method being used for the determination of the effective dose of methotrexate in each patient, whereby a method for treatment of rheumatoid arthritis in each patient is also obtained.
摘要:
Evaluation methods for evaluating susceptibility to multifactorial diseases in sexual differentiation disorders, human estrogen receptor alpha (α) genes carrying single nucleotide polymorphisms (SNPs) associated with the multifactorial diseases, DNAs containing the nucleotides at the SNPs, and diagnostic markers containing the DNAs are provided.Susceptibility to the multifactorial diseases can be evaluated by examining at least one of SNPs 8 to 14, or SNPs 10 to 14, in a human estrogen receptor α gene, and more precisely evaluated by examining a diplotype encompassing SNPs 10 to 14.
摘要:
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.