Yonsei University · Biochemistry, Genetics and Molecular Biology
Professor Hui Kwon Kim's research lab specializes in molecular and genetic mechanisms underlying rare genetic disorders, particularly focusing on Hutchinson-Gilford progeria syndrome (HGPS) and its associated cardiovascular pathologies. The lab also engages in cutting-edge computational and genomic research, developing deep learning models to predict CRISPR-Cas9 (SpCas9) activity with high accuracy. Their work bridges clinical genetics with bioinformatics, aiming to improve gene editing precision and understand disease mechanisms at the molecular level. The lab integrates high-throughput functional genomics with machine learning to advance both therapeutic discovery and genomic tool development.
Figures are computed from collected data and may differ slightly.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal rang
Abstract We evaluated SpCas9 activities at 12,832 target sequences using a high-throughput approach based on a human cell library containing sgRNA-encoding and target sequence pairs. Deep learning-based training on this large data set of SpCas9-induced indel frequencies led to the development of a SpCas9-activity predicting model named DeepSpCas9. When tested against independently generated data sets (our own and those published by other groups), DeepSpCas9 showed unprecedentedly high generaliza
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