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TITLE

Whole genome sequencing and Korean reference genome project

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ABSTRACT

Recently, the progress of sequencing technology enables many reference genome projects more efficiently than ever before. Earlier projects such as international HapMap project and 1,000 genome project provide invaluable resources about population genetic structure. These resources have been applied to identification or interpretation of genome wide association study results or imputation of SNP microarray data. Although such projects contain multiple ethnic groups or populations, it is difficult to represent specific populations that were not included in the international projects. Recently, with the development of next generation sequencing technology and bioinformatics, population-level whole genome sequencing is no more troublesome task. Especially, the results of Singapore Malay Sequencing project (SSMP) revealed that ethnically specific reference panel is advantageous for imputation accuracy. Although trans-ethnic significance of genomic loci for disease are reported, it is still questionable that population specific susceptibility for common disease. For these purpose, we planned Korean Reference Genome Variation Project (KRGVP), which is sequencing of 400 Korean population sampled from cohort and general population. On average, 30X depth illumine sequencing was performed.

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RECENT PUBLICATIONS

Kim K, Ban HJ, Seo J, Lee K, Yavartanoo M, Kim SC, Park K, Cho SB, Choi JK. Genetic factors underlying discordance in chromatin accessibility between monozygotic twins. Genome Biol. 2014 May 29;15(5):R72.

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Ryu D, Cho S, Kim H1, Lee S, Kim W.GEPdb: a database for investigating the ternary association of genotype, gene expression and phenotype.Bioinformatics. 2014 May 7

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Unraveling human protein interaction networks underlying co-occurrences of diseases and pathological conditions. Paik H, Heo HS, Ban HJ, Cho SB.J Transl Med. 2014 Apr 14

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Differential impact of science policy on subfields of human embryonic stem cell research. Moon S, Cho SB. PLoS One. 2014 Apr 9;9(4)

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