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 16):
A method for genotype analysis using genetic variation information on a personal genome, the method comprising:\n step (A) in which an analysis date input unit receives analysis data consisting of DNA sequencing data; step (B) in which a HaploScan engine determines genotype of a gene included in the analysis data; step (C) in which the HaploScan engine acquires variation information on the gene of the analysis data; step (D) in which step (B) and step (C) are repeatedly performed on all genes included in the analysis data; and step (E) in which the search control unit produces the results of disease cause prediction by generating a disease cause relationship (\u03a0x) through an arithmetic expression generated by logistic regression; wherein: the determination of the genotype in step (B) comprises: a step of determining the genotype among genotype classes classified in a single-gene haplo map, for single genes of the analysis data; and a step of determining the genotype among genotype classes classified in a multiple-gene haplo map, for multiple genes included in the analysis data; the acquisition of the variation information in step (C) comprises: a step of comparing single-gene haplo frequency information on a gene at a specific locus in the analysis data with that on a gene at the same locus, thereby acquiring variation information on the gene at the specific locus in the analysis data; and a step of comparing multiple-gene haplo frequency information on multiple genes of the analysis data with that on multiple genes for a specific phenotype, thereby acquiring variation information on the multiple genes of the analysis data; the single-gene haplo map stores haplotype and trait frequencies for each race, classified (clustered) by proportion, for single genes of the control group; the multiple-gene haplo frequency information stores variation information on variations that classify the single-gene genotypes stored in the single-gene haplo map; the multiple-gene haplo map stores multiple-gene variation distributions of the control group for each phenotype, classified by proportion; the multiple-gene haplo frequency information is variation information on variations that classify genotypes for the phenotypes; 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): 0.1604433952121153
- 35 USC 102 Novelty (BERT): 0.5049558482765243
- Combined Prediction Score: 0.1948946405185562
- Mean Citation Score: 252.310042
- Max Citation Score: 260.86987
- Similarity Product: 189.89192819909275

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