Abstract
After obtaining personal genome data by next generation sequencing, we now are ready to analyze and interpret the data. This chapter introduces various approaches for adding SNP annotations and medicinal interpretations, using open sources based on personal genome data and genome variation information. This chapter will cover the following: (1) effective use of SNP data in SNPedia, (2) auto annotations of large volume of SNPs using Promethease application program, (3) calculation methods of damage degree of proteins through SIFT algorithm, (4) analysis of the effect of SNPs on coding regions to diseases or drug responses by mapping with the pharmacogenomics knowledge base or biological pathways, and (5) practicums for acquiring and using allele frequencies among races based on public data of the 1000 genomes project.
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Kim, J.H. (2019). Personal Genome Data Analysis. In: Genome Data Analysis. Learning Materials in Biosciences. Springer, Singapore. https://doi.org/10.1007/978-981-13-1942-6_3
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DOI: https://doi.org/10.1007/978-981-13-1942-6_3
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