SNP Array Imputation
The human genome is composed of 23 pairs of chromosomes, which affect individual differences in human genetics. There are about 3 billion DNA base pairs in the human body, and there is a SNP locus every 100 to 300 bases. According to the National Center for Biotechnology Information (NCBI), more than 100 million SNP loci in the human body have been marked. At present, systematic detection of SNP loci has been carried out, and a relevant database between SNP loci and diseases has been established, which promotes the development of personalized medicine and precise treatment.
]In order to increase the estimated loci of human genes to facilitate individual disease prediction and drug use, this case uses the data of 1361 Taiwanese Whole Genome Sequence (WGS) released by Taiwan Biobank as the Reference Panel, using the 440,000 points left by the DNA microarray TWB 2.0 after quality control, combing with the AI model Beagle 5.2 and the principle of linkage disequilibrium to calculate the most likely 15 million loci. In addition to improving the overall cost-effectiveness of DNA microarrays, it can also integrate SNP gene detection results, environmental conditions, nutritional status, and lifestyle factors, then use big-data database analysis to predict the results of risks and traits from various diseases.
（Figure description）Operational procedure of SNP array imputation