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Title 

Identification of ethnically specific genetic variations in pan-asian ethnos

Authors 

Jin Ok YangSohyun HwangW Y KimSeong Jin ParkS C KimKiejung ParkByunguk LeeHUGO Pan-Asian SNP Consortium

Publisher 

Korea Genome Organization

Issue Date 

2014

Citation 

Genomics & Informatics, vol. 12, no. 1, pp. 42-47

Keywords 

DNA copy number variationsclassificationethnic groupsgenotypesingle nucleotide polymorphism

Abstract 

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.

ISSN 

1598-866X

Link 

http://dx.doi.org/10.5808/GI.2014.12.1.42

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2017-04-19


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