Yonsei University · 医学
Professor Jihoon G. Yoon's research lab specializes in clinical and translational genomics, focusing on the genetic basis of neurogenetic and metabolic disorders. The lab employs advanced bioinformatics and molecular diagnostics to identify pathogenic repeat expansions and rare genetic variants associated with diseases such as spinocerebellar ataxias, myotonic dystrophy, and drug-induced liver injury. A key focus is on optimizing diagnostic pipelines using machine learning and targeted sequencing to improve precision medicine in complex conditions. The lab also investigates pharmacogenomic determinants of drug response, particularly in transplant and tuberculosis therapies.
Figures are computed from collected data and may differ slightly.
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet, clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value, we analyzed STRs in 6099 exomes from 2510 families with mostly suspected neurogenetic disorders. We employed ExpansionHunter and REViewer to detect pathogenic repeat expansions, confirming them using orthogonal methods. Genotype-phenotype correlations led to the diagnosis of thirteen individuals in seven previously u
Jihoon G. Yoon, M.D., Ph.D., Seungbok Lee, M.D., Ph.D., Sheehyun Kim, M.D., Man Jin Kim, M.D., Ph.D., Yoon Hwan Chang, M.D., Ph.D., Jin Kyun Park, M.D., Ph.D., Dong-Yeop Shin, M.D., Ph.D., and Jangsup Moon, M.D., Ph.D.. Ann Lab Med 2023;43:217-20. https://doi.org/10.3343/alm.2023.43.2.217
Anti-tuberculosis (AT) medications, including isoniazid (INH), can cause drug-induced liver injury (DILI), but the underlying mechanism remains unclear. In this study, we aimed to identify genetic factors that may increase the susceptibility of individuals to AT-DILI and to examine genetic interactions that may lead to isoniazid (INH)-induced hepatotoxicity. We performed a targeted sequencing analysis of 380 pharmacogenes in a discovery cohort of 112 patients (35 AT-DILI patients and 77 controls
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have been no established reports of human diseases directly linked to HDAC3 dysfunction. Using trio exome sequencing and extensive phenotypic analysis, we correlated heterozygous de novo variants in HDAC3 with a neurodevelopmental disorder having variable clinical presen
Dear Editor
This report expands the known clinical spectrum of AT, highlighting a familial case of atypical AT. Moreover, it underscores the clinical utility of Nanopore long-read sequencing in phasing variant haplotypes, essential for diagnosing autosomal recessive disorders, especially beneficial for cases without parental samples.
This report, to our knowledge, is the first to describe a non-coding deletion associated with AHDS, demonstrating the potential utility of long-read sequencing for undiagnosed patients. Although interpreting variants in non-coding regions remains challenging, our study highlights this region as a high priority for future investigation and functional studies.
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
This study sheds light on the complex genetic architecture of microcephaly, emphasizing the impact of rare coding variants on brain development and delineating distinct clinical and molecular profiles underlying PM and SM.
<i>Fusobacterium nucleatum</i> (<i>Fn</i>) is increasingly recognized as a cancer-associated bacterium, yet reliable quantification in human specimens is challenging due to low bacterial burden and abundant host DNA. We analyzed 145 <i>Fusobacterium</i> genomes to design primers targeting conserved regions of the <i>fadA</i> adhesin gene and developed a duplex quantitative real-time PCR (qPCR) assay for simultaneous detection of <i>fadA</i> and a human <i>PGT</i> as an internal control. Analytic
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