Genome-wide association studies (GWAS) aim to collect large samples of human genomes from all over the world and study genetic variants or genes associated with human diseases. Since the first GWAS in 2005, it has been quite successful in identifying genetic variants or genes responsible for various complex disorders such as autism, schizophrenia, and diabetes, and the results of GWAS studies have been used to find better ways to detect, treat, and prevent human genetic disorders. However, most of the GWAS studies have focused on European ancestries, leaving many ethnic groups to be underrepresented. This has resulted in a significant research gap in our understanding of the genetic architecture of complex diseases in non-European populations. So, there exists a great need of studying Asian genomes, including genetic data from the Korean population. To address this gap, the goal of this project is to incorporate Korean genomic data as well as create an Asian panel to reanalyze existing GWAS, continuing to diversify and expand this area of research. To this end, this study will create a next-generation Asian reference panel, which will include previously collected Asian genomic data as well as the newly created Korean genomic dataset. With this new panel, we will be able to reanalyze existing Korean GWAS and draw new findings. This can help researchers gain a better understanding of the genetic basis of complex disorders which is crucial for future ethnogenetic research. Overall, this research experience has been invaluable in providing me with practical skills in statistical analysis and expanding my understanding of the real-world applications of bioinformatics and human genetics research.
Grace Koo, Data Science and Statistics and Information Systems Major
Advisor(s): Donghyung Lee, Department of Statistics
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