Abstract

The present invention relates to human haplotyping having improved accuracy and efficiency in detecting, through a computerized system, a genotype for identifying human genetic characteristics. The present invention comprises: a sequence read collection step of collecting the sequence of a gene to be examined; a sequence read alignment step of matching the collected sequence read to the reference stored in database and aligning the same; an allele selection step of selecting candidate alleles among reference alleles; and an allele determination step of determining a final allele among the candidate alleles. The present invention carries out haplotyping by using short sequence reads on the basis of alignment-based approach, can improve the selection efficiency of candidate alleles, and has an effect of enabling false alleles caused by phase issues to be detected by applying a unique read operation algorithm.

IPC Classes  ?

• G06F 19/20 - for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
• G06F 19/12 - for modelling or simulation in systems biology, e.g. probabilistic or dynamic models, gene-regulatory networks, protein interaction networks or metabolic networks
• G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures

Abstract

The present invention relates to a system for identifying and providing a cause of a disease by analyzing genetic information obtained from an individual's genome by comparing a database of multiple whole genomes established by a genome project with the information on the individual's genome which has been input. The present invention comprises: an analysis data input unit for receiving the input of analysis data including information on an individual's genome; a search control unit for comparing gene information stored in a database with the information on the genome being analyzed, producing analysis results including the genotype, the genotype versus the phenotype, a rare variation, a disease variation and/or a bioactive variation of each gene, and generating a result report from the analysis results; and a storage unit for storing the gene information of a control group to be compared with the analysis data. The present invention can provide a gene analysis platform having improved efficiencies in determining the genotype of and detecting a significant variation in an individual's genome, by effectively comparing gene variation information stored in the database of a control group with the individual's genome being analyzed.

IPC Classes  ?

• G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
• G06F 19/20 - for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
• G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
• G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification

Abstract

The present invention relates to a system and a method for analyzing and providing genotype information obtained from an individual's genome by comparing a database of multiple whole genomes established by a genome project with the information on the individual's genome which has been input. The present invention is implemented by comprising: (A) a step in which an analysis data input unit receives the input of analysis data comprising a DNA sequence; (B) a step in which a HaploScan engine compares haplo-frequency information between a gene at a predetermined locus in the analysis data and a gene at an identical locus; (C) a step in which variation information on the gene at a predetermined locus in the analysis data is obtained from the comparison result derived in step (B); and (D) a step in which, on the basis of the variation information obtained in step (C), the genotype of the gene is determined according to the genotype classification provided in a single gene haplo map. The present invention can rapidly and efficiently determine the genotype of an individual's genome by effectively comparing genetic variation information stored in the database of a control group with the individual's genome being analyzed.

IPC Classes  ?

• G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
• G06F 19/20 - for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
• G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
• G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification

Abstract

The present invention relates to a system for analyzing and providing bioactive variation information obtained from an individual's genome by comparing a database of multiple whole genomes established by a genome project with the information on the individual's genome which has been input. The present invention comprises: an analysis data input unit for receiving the input of analysis data including information on an individual's genome; a search control unit for comparing bioactive variation information stored in a database with the analysis data, producing analysis results including variation information, included in the analysis data, of a base associated with a protein binding-related amino acid, and generating a result report from the analysis results; and a BAV/biomarker DB in which gene information determining the form of the amino acid in the binding position of various proteins is stored, in order to compare same with the analysis data. The present invention can analyze protein-related genetic features by detecting protein binding amino acid-related variation in an individual's genome by effectively comparing gene variation information stored in the database of a control group with the individual's genome being analyzed.

IPC Classes  ?

• G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
• G06F 19/20 - for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
• G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
• G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification

Abstract

The present invention relates to a plasma biomarker for diagnosing hepatocellular carcinoma (HCC), in particular to the discovery of a protein in plasma using 2-D fluorescence differential gel electrophoresis (2-D DIGE), immunoprecipitation and Nano-liquid chromatography mass spectrometry (Nano-LC-MS/MS) system that was unknown on the basis of conventional techniques. By demonstrating the presence of liver carboxylesterase 1 (hCE1) in human plasma and confirming that its secretion level is higher in patients with HCC than in healthy volunteers, this invention may be used as a screening method to diagnose HCC at an early stage.

IPC Classes  ?

• C12Q 1/44 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving hydrolase involving esterase