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1. Introduction of SNPANALYZER PRO
1.1. Summary
SNP (Single Nucleotide Polymorphism) is a DNA sequence variation occurring when a single
nucleotide - A, T, C, or G - in the genome differs between members of a species. SNP forms
over 90% of the variations occurring in the human genome. In general, the variation occurs from
one in 200 to 1000 nucleotides. It is known that the pattern of variation differs from geographical
or ethnic groups as well as individuals. Therefore, by analyzing the pattern of SNP occurrence,
it provides the foundation to analyze the cause of the difference in sensibility to diseases and
reaction to drugs in the DNA sequence level. Although genotyping was performed on a small
number of SNPs for a specific gene in the past, the genome-wide SNP chip technology that can
simultaneously perform genotyping on from 10,000 to 1 million SNPs distributed in the entire
genome is used in a variety of biological research. SNPAnalyzer-Pro is a SNP analysis specialty
program that can analyze not only a small scale of SNP genotype data but also a large scale of
genome-wide SNP chip data in various ways through the user-friendly interface. SNPAnalyzerPro can perform various analyses: case-control study, classification analysis, and Linkage
Disequilibrium relationship analysis and it provides a variety of biological annotation information
in real-time.
Data
DataImport
Import
Quality
QualityInspection
Inspection
Pairwise
PairwiseLD
LDCalculation
Calculation
LD
LDBlocking
Blocking
Haplotype
HaplotypeEstimation
Estimation
Cross
CrossTab
TabAnalysis
Analysis
(SNP)
(SNP)
Cross
CrossTab
TabAnalysis
Analysis
(Haplotype)
(Haplotype)
Filtering
Filtering
Classification
ClassificationAnalysis
Analysis
Biological
Biological Annotation
Annotation
<Figure 1-1> SNP Analysis Process using SNPAnalyzer-Pro
ISTECH-SNPAnalyzer-Pro™ User Manual
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Ver 1.1 Draft Under Review