Korean Genome Analysis Project
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Korea Biobank array project
Next-generation sequencing (NGS) is one of the advanced techniques used for screening genetic variants across the entire human genome. However, it is a relatively high-cost and computationalextensive process. Alternatively, customized genotyping arrays have been recognized as a costeffective tool in population-based genetic association studies.
In recent, biobank arrays have been used to perform large-scale GWASs or meta-analyses across ethnic diverse populations. Currently, conventional genotyping arrays have been developed based on genetic information from European ancestries.
For that reason, additional genomic information from the Korean population is needed to identify ethnic-specific genetic factors in complex diseases. For the purpose of developing a Korean-specific customized chip, we launched the Korea Biobank Array Project in 2014. The Korea Biobank Array was designed using genomic information from Korean cohort samples.
It contains about 830,000 SNPs including functional SNPs such as nonsynonymous SNPs, HLA region variants, pharmacogenetic markers, eQTL, and previous diseaseassociated SNPs [Figure 1]. The content of the Korea Biobank Array was developed based on input by an advisory committee and experts in genomics, bioinformatics, and biomedical area.
The genomic coverage of the Korea Biobank Array is over 95% in common variants (minor allele frequency > 5%) and over 73% in less common variants (minor allele frequency 1~5%), respectively. Furthermore, the Korea Biobank Array achieved over 99.5% accuracy and reproducibility, which is higher than those of previously designed conventional chips. Quality control guidelines and a pipeline for further association analysis were also constructed for adjustment to the Korea Biobank array.
The Center for Genome Science held a conference for proceedings of the Korea Biobank Array Project on May 13, 2015. At this conference, processes and results on the Korea Biobank Array Project were announced to researchers and experts engaging in scientific research fields. A large-scale genotyping project using 35,000 cohort-based Korean samples was completed at the end of 2015. Follow-up quality control for the genotyped data is in progress according to standardized guidelines.
Figure1. Overall workflow, product, and quality control of the Korea Biobank Array