Jaehyun’s research interests are focused on the analysis of whole genome sequencing data from patients with neurological disorders. To this end, he is developing a bioinformatics pipeline specifically designed to detect tandem repeats that are implicated in the development of these disorders. A key component of his research involves the integration of multiomics single-cell datasets, which enable a comprehensive interpretation of pathogenic genetic variations in relation to the neurological disorders being studied. Jaehyun’s ultimate objective is to gain a comprehensive understanding of the genetic architecture underlying these diseases, which requires an in-depth exploration of all forms of human genomic variation.
Through his research, Jaehyun aims to contribute to the ongoing efforts aimed at improving our understanding of the genetic basis of neurological disorders. The bioinformatics pipeline that he is developing has the potential to enhance our ability to detect and interpret tandem repeats, which are known to play a key role in the development of these conditions. By integrating multiomics datasets, he aims to gain a more complete picture of the pathogenic genetic variations associated with these disorders. Overall, his research efforts represent an important step towards gaining a comprehensive understanding of the genetic underpinnings of neurological disorders, which could pave the way for more effective treatments and management strategies for these conditions.