PATENT CLAIM ANALYSIS

Application Number: 16065982
Application Type: Utility
Filing Date: 2018-11
Publication Date: 2019-03
Patent Classification: ["702", "020000"]

Abstract:
Disclosed is a system for genotype analysis using genetic variation information on a personal genome. The system includes an analysis data input unit configured to receive analysis data including personal genomic information; a search control unit configured to produce analysis results including a genotype of each gene or genotype versus phenotype by comparing genetic information stored in a database with the analysis data and to generate a result report based on the analysis results; and a storage unit comprising a haplotype DB that stores genotype information on genes of a control group to compare with the analysis data. The search control unit includes a HaploScan engine configured to determine the genotype of the analysis date by comparing the analysis data with the haplotype DB.

Claim (Index 14):
A system for genotype analysis using genetic variation information on a personal genome, the system comprising:\n an analysis date input unit configured to receive analysis data including personal genomic information; a search control unit configured to produce analysis results including a genotype of each gene or genotype versus phenotype by comparing genetic information stored in a database with the analysis data and to generate a result report based on the analysis results; and a storage unit comprising a HaploScan DB that stores genotype information on genes of a control group to compare with the analysis data, wherein: the search control unit comprises a HaploScan engine configured to determine the genotype of the analysis date by comparing the analysis data with the haploScan DB; the HaploScan DB comprises: a single-gene information database that stores genotype information on single genes; and a multiple-gene information database that stores genotype information on multiple genes for each genotype; the single-gene information database comprises: a single-map haplo map that stores haplotype and trait frequencies for each race, classified (clustered) by proportion, for single genes of the control group; and single-gene haplo frequency information that stores variation information on variations that classify the single-gene genotypes stored in the single-gene haplo map; the multiple-gene information database comprises: a multiple-gene haplo map that stores genotype-associated nucleotide variation distributions classified by race and proportion for multiple genes of the control group for each phenotype; and multiple-gene haplo frequency information that stores variation information on variations that classify genotypes for the phenotypes stored in the multiple-gene haplo map; the storage unit further comprises a clinical information DB that stores subject's environmental factor information to be considered together with genetic traits in order to produce the results of disease cause prediction based on clinical information; the search control unit is configured to produce the results of disease cause prediction by generating a disease cause relationship (\u03a0x) through an arithmetic expression generated by logistic regression; the arithmetic expression for the disease cause relationship is \u03c0 x = exp \ue8a0 ( \u03b2 0 + \u03b2 1 \ue89e x 1 + \u03b2 2 \ue89e x 2 + \u2026 + \u03b2 n \ue89e x n ) 1 + exp \ue8a0 ( \u03b2 0 + \u03b2 1 \ue89e x 1 + \u03b2 2 \ue89e x 2 + \u2026 + \u03b2 n \ue89e x n ) wherein variables \u03b2 are parameters dependent on subject's personal health records (PHRs), including age, sex or bone mass index, stored in a clinical information DB; and variables \u03c7 are parameters dependent on either the genotypes of single genes included in the analysis data produced by the search control unit or the genotypes of multiple genes for each phenotype.

Metadata:
- Claim Count in Document: 14.0
- Percentile: 98.0
- Lexical Diversity: 2.08065
- Patent Class: 702.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: True
- Related Applications: ['12511778', '12553445', '11077564', '10788260', '15083058']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.1606544017761493
- 35 USC 102 Novelty (BERT): 0.5030977018024582
- Combined Prediction Score: 0.1948987317787802
- Mean Citation Score: 252.310042
- Max Citation Score: 260.86987
- Similarity Product: 195.511154875896

Labels:
- Claim Label 101: 0
- Claim Label 102: 1
- Claim Label 103: 1
- Claim Label 112: 0
- Combined Label: 0
- Label 101 Adjusted: 0

Dataset: test