Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos
Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic g...
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| Format: | Article |
| Language: | English |
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BioMed Central
2014-03-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-12-42.pdf |
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| author | Jin Ok Yang Sohyun Hwang Woo-Yeon Kim Seong-Jin Park Sang Cheol Kim Kiejung Park Byungwook Lee |
| author_facet | Jin Ok Yang Sohyun Hwang Woo-Yeon Kim Seong-Jin Park Sang Cheol Kim Kiejung Park Byungwook Lee |
| author_sort | Jin Ok Yang |
| collection | DOAJ |
| description | Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic groups. We obtained 58,960 Pan-Asian single nucleotide polymorphisms of 1,953 individuals from 72 ethnic groups of 11 Asian countries. We selected 9,306 ethnic variant single nucleotide polymorphisms (ESNPs) and 5,167 ethnic variant copy number polymorphisms (ECNPs) using the nearest shrunken centroid method. We analyzed ESNPs and ECNPs in 3 hierarchical levels: superpopulation, subpopulation, and ethnic population. We also identified ESNP- and ECNP-related genes and their features. This study represents the first attempt to identify Asian ESNP and ECNP markers, which can be used to identify genetic differences and predict disease susceptibility and drug effectiveness in Asian ethnic populations. |
| format | Article |
| id | doaj-art-acca0f492ab1435a83f1ab2c76dec276 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2014-03-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-acca0f492ab1435a83f1ab2c76dec2762025-02-02T21:10:06ZengBioMed CentralGenomics & Informatics1598-866X2234-07422014-03-01121424710.5808/GI.2014.12.1.42124Identification of Ethnically Specific Genetic Variations in Pan-Asian EthnosJin Ok Yang0Sohyun Hwang1Woo-Yeon Kim2Seong-Jin Park3Sang Cheol Kim4Kiejung Park5Byungwook Lee6Korean BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 305-806, Korea.Korean BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 305-806, Korea.Bioinformatics Team, CSP R&D Center, Samsung SDS, Seoul 135-918, Korea.Korean BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 305-806, Korea.Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea.Korean BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 305-806, Korea.Korean BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 305-806, Korea.Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic groups. We obtained 58,960 Pan-Asian single nucleotide polymorphisms of 1,953 individuals from 72 ethnic groups of 11 Asian countries. We selected 9,306 ethnic variant single nucleotide polymorphisms (ESNPs) and 5,167 ethnic variant copy number polymorphisms (ECNPs) using the nearest shrunken centroid method. We analyzed ESNPs and ECNPs in 3 hierarchical levels: superpopulation, subpopulation, and ethnic population. We also identified ESNP- and ECNP-related genes and their features. This study represents the first attempt to identify Asian ESNP and ECNP markers, which can be used to identify genetic differences and predict disease susceptibility and drug effectiveness in Asian ethnic populations.http://genominfo.org/upload/pdf/gni-12-42.pdfclassificationDNA copy number variationsethnic groupsgenotypesingle nucleotide polymorphism |
| spellingShingle | Jin Ok Yang Sohyun Hwang Woo-Yeon Kim Seong-Jin Park Sang Cheol Kim Kiejung Park Byungwook Lee Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos Genomics & Informatics classification DNA copy number variations ethnic groups genotype single nucleotide polymorphism |
| title | Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos |
| title_full | Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos |
| title_fullStr | Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos |
| title_full_unstemmed | Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos |
| title_short | Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos |
| title_sort | identification of ethnically specific genetic variations in pan asian ethnos |
| topic | classification DNA copy number variations ethnic groups genotype single nucleotide polymorphism |
| url | http://genominfo.org/upload/pdf/gni-12-42.pdf |
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