32 results about "Haplotype block" patented technology

There is provided a system performing high-accuracy diagnostic decision support in consideration of the influence of a haplotype block and a genetic structure.

Haplotype block inference means 13 infers the positions of haplotype blocks, and analyzes each of the haplotype blocks to infer a haplotype pattern of individuals with high accuracy. Genetic structure inference means 15 performs clustering the individuals on the basis of the haplotype pattern to divide a population into some subpopulations, and removes the influence of a genetic structure existing in the population. A genetic structure information database 16 and a clinical information database 11 are used to analyze association of clinical information with genetic information for providing high-accuracy diagnostic decision support knowledge. On the basis of the diagnostic decision support knowledge obtained by analyzing the association of clinical information with genetic information, risk calculation means 19 calculates a risk that a predetermined individual is affected by disease.

The invention provides nucleic acid segments of the human genome including polymorphic sites, SNP haplotype blocks, SNP haplotype patterns for each block and informative SNPs for each pattern. Allele-specific primers and probes hybridizing to regions flanking these sites are also provided. The nucleic acids, primers and probes are used in applications such as association studies and other genetic analyses.

A database of genetic variations is analyzed to produce a haplotype map of the genome for strains of a single species. A computational method is used to rapidly map complex phenotypes onto the haplotype blocks within the haplotype map. The specific genetic locus regulating three different biologically important phenotypic traits in mice is identified using these systems and methods.

The invention discloses a restrictive two-stage genome-wide association study (GWAS) method based on an SNPLDB mark, and aims at solving the problems that a traditional method cannot be used for estimating multiple allele information, and is high in false positive rate and low in efficiency of detection on inbreeding crops. By combination of the SNPLDB mark constructed on the basis of a haplotype block, correction of deviation of an inbreeding population relation analysis model and a two-stage relation analysis strategy under a multi-site model, the GWAS method suitable for conventional breeding of inbreeding crops is built; the SNPLDB mark is applied to GWAS, so that a method is provided for multiple allele estimation; candidate sites are screened on the basis of a single-site model in the first stage, and are further screened on the basis of a progressive regression analysis method in the multi-site model in the second stage, so as to balance the problems of missing of heritability and over-high heritability estimation. Therefore, the interpretation ratio of a final genetic model is controlled at trait heritability. The positioning accuracy and efficiency are improved by a feature vector and an appropriate significant level of a similarity coefficient matrix estimated by the SNPLDB mark by GWAS.

Improved life sciences business systems and methods are disclosed. One or more genomes are scanned for single nucleotide polymorphisms. The polymorphisms are assigned to haplotype blocks, and representative SNPs from the haplotype blocks are used in association studies for pharmaceutical and diagnostic developments.

We have identified and isolated a 12 kb region immediately upstream of the AKT1 gene containing eight single nucleotide polymorphic polynucleotides (SNPs) in 4 haplotype regions that show strong association with body composition, Basal Mass Index, and AKT1 expression enhancement in human males. A four-locus haplotype (Haplotype 2) was defined where residues within highly conserved regulatory regions were altered. This haplotype explained up to 26% of population variation in bone cortical volume, 12% of subcutaneous fat volume, and 9% of strength variation, resulting in a body build with large bones, strong muscles, and low subcutaneous fat. Other SNPs detect, presymptomatically, the potential for increased amounts of subcutaneous fat and Type II diabetes. The detection of these SNPs by the techniques described herein forms the foundation for genotype-specific clinical interventions designed to slow the rapid population increases in obesity and Type II diabetes.

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.

A numerical approach used to select a reduced subset of single nucleotide polymorphisms (SNPs) from a larger superset and useful for efficiently identifying haplotype blocks or other genetic loci. In general, the methods may be configured to select for the reduced SNP subset with little or no loss of haplotype diversity information. The methods may also be adapted to operate in a more aggressive mode to further reduce the SNP set while maintaining diversity of haplotype blocks with minimal loss of information. Computation of the reduced SNP subset is generally rapid and the methods perform well even when applied to large data sets spanning significant genomic distances.

The invention relates to a set of single nucleotide polymorphism (SNP), a biological marker and haplotype block tag single nucleotide polymorphisms (tagSNPs) for diagnosing hyperbilirubinemia in the technical field of biology. An SNP locus is one of the fifteen SNP loca shown in a table, and the biological marker is 1A4 intron SNPc.867+101G>T. The set of the SNP, the biological marker and the haplotype block tagSNPs can detect whether an individual has the risk of diseases or not, diagnose specific types of the hyperbilirubinemia suffered by the individual according to difference of the SNP loca of a specific marker, and achieve the purposes of early prediction, early diagnosis, early intervention and early treatment. The biological marker can further be used for developing a diagnostic reagent kit and can be applied to clinical research, analysis and diagnosis.

Some embodiments relate to a method for detecting the presence of one or more nucleic acids indicative of a health condition, tissue of origin, germ layer of origin or organ of origin in a mixture of nucleic acids comprising performing methylation analysis on a sample comprising a plurality of nucleic acids and determining whether the sample includes a plurality of methylation haplotype blocks indicative of the presence one or more nucleic acids indicative of a health condition, tissue of origin, germ layer of origin or organ of origin wherein the methylation haplotype blocks comprise a plurality of methylation sites for which the methylation status is coordinated.

The present invention includes the use of any of the polymorphisms, SNP haplotype blocks or SNP haplotype patterns. In one embodiment, susceptibility to a phenotype resulting from an allele or marker in linkage disequilibrium with such polymorphic forms is evaluated. Novel therapeutic and diagnostic compounds and methods are also disclosed.

The invention discloses a method and a system for unbiasedly evaluating whole genome SNP (single nucleotide polymorphism) chip exome and analyzing gene coverage rate, and evaluating SNP coverage rate condition of DNA (deoxyribose nucleic acid) fragments. False positive rate of the existing methods can be reduced and accuracy thereof can be improved while advantages of the existing evaluating methods are preserved. The technical scheme includes establishing models according to population genetics classical theory haplotype block and linkage disequilibrium theory, loading the established data models to a data processing unit, processing dataset to be detected or sequence position information, outputting image results and calculating the results, inputting the results to a calculating module to analyze, and acquiring annotation of coverage rate condition and r2 according to image information and data information.