Jong Rak Choi
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View article: Increasing Antimicrobial Resistance Profile Diversity of Colonizing Group B <i>Streptococcus</i> in Reproductive-aged Women in Korea
Increasing Antimicrobial Resistance Profile Diversity of Colonizing Group B <i>Streptococcus</i> in Reproductive-aged Women in Korea Open
The acquisition of diverse resistance genes has expanded AMR profiles in colonized GBS, emphasizing the need for sustained nationwide surveillance.
View article: Coexistent Out-of-frame and In-frame e8a2 <i>BCR</i>::<i>ABL1</i> Transcripts in a Patient with Chronic Myeloid Leukemia: A Case Report
Coexistent Out-of-frame and In-frame e8a2 <i>BCR</i>::<i>ABL1</i> Transcripts in a Patient with Chronic Myeloid Leukemia: A Case Report Open
View article: Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis
Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis Open
The PAN100 panel is a robust tool for detecting clinically significant variants with high concordance with tissue NGS. Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its co…
View article: Data from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma
Data from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma Open
Purpose:Endometrial cancer is a common gynecologic malignancy that lacks effective noninvasive screening tools as traditional approaches rely on invasive biopsies. In this large prospective study, we evaluated a novel approach combining va…
View article: Supplementary Data1 from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma
Supplementary Data1 from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma Open
Supplementary Data
View article: Supplementary Text, Table, Figure1 from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma
Supplementary Text, Table, Figure1 from Genomic Profiling in Patients with Endometrial Cancer by Deep Sequencing of Vaginal Swabs and Plasma Open
Supplementary Text, Table, Figure
View article: Real‐world clinical experience with <scp>NGS</scp>‐based chimerism analyses in haematopoietic stem cell transplant patients
Real‐world clinical experience with <span>NGS</span>‐based chimerism analyses in haematopoietic stem cell transplant patients Open
Summary Next‐generation sequencing (NGS) has improved the sensitivity of chimerism assays beyond the limitations of conventional short tandem repeat (STR) methods, enabling the detection of minimal recipient haematopoiesis after haematopoi…
View article: Identification of <i>IGH::DUX4</i> Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report
Identification of <i>IGH::DUX4</i> Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report Open
View article: Factors Influencing Fluorescence-activated Cell Sorting for Multiple Myeloma Fluorescence <i>in situ</i> Hybridization: Real-world Experience
Factors Influencing Fluorescence-activated Cell Sorting for Multiple Myeloma Fluorescence <i>in situ</i> Hybridization: Real-world Experience Open
Plasma cell percentage and sample transfer time are critical factors influencing FACS success. While FACS-FISH demonstrates superior sensitivity in detecting CAs, direct FISH serves as a valuable alternative when FACS fails. These findings…
View article: A Cognitive Analysis and Life Prediction Through AI Algorithm of Control Arm Using Manufacturing and Vehicle Driving Data
A Cognitive Analysis and Life Prediction Through AI Algorithm of Control Arm Using Manufacturing and Vehicle Driving Data Open
This study aims to enhance vehicle safety by predicting the life perdition of control arms, critical suspension components. Traditional inspection methods have limitations in accurately predicting failures, leading to unexpected accidents …
View article: Identification of <i>de novo</i> BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Identification of <i>de novo</i> BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases Open
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive uppe…
View article: Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads
Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads Open
View article: Prognostic Value of Residual Circulating Tumor DNA in Metastatic Pancreatic Ductal Adenocarcinoma
Prognostic Value of Residual Circulating Tumor DNA in Metastatic Pancreatic Ductal Adenocarcinoma Open
Residual ctDNA analysis post-chemotherapy is a promising approach for predicting the clinical outcomes of patients with metastatic PDAC.
View article: Subgrouping Non-Specific Low Back Pain Based on Spinal Marker Trajectory Data: An Unsupervised Machine Learning Approach
Subgrouping Non-Specific Low Back Pain Based on Spinal Marker Trajectory Data: An Unsupervised Machine Learning Approach Open
View article: Klebsiella pneumoniae, a human-dog shuttle organism for the genes of CTX-M ESBL
Klebsiella pneumoniae, a human-dog shuttle organism for the genes of CTX-M ESBL Open
View article: Supplementary Data 1 from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer
Supplementary Data 1 from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer Open
Supplementary Methods Supplementary Figure 1-5 Supplementary Table 1-2
View article: Supplementary Data 1 from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer
Supplementary Data 1 from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer Open
Supplementary Methods Supplementary Figure 1-5 Supplementary Table 1-2
View article: Data from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer
Data from Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with <i>BRCA</i>-mutated ovarian cancer Open
Purpose: Patient-specific molecular alterations leading to poly ADP-ribose polymerase inhibitor (PARPi) resistance are relatively unexplored. In this study, we analyzed serially collected circulating tumor DNA (ctDNA) from patients with
View article: Evaluation of autoimmune liver disease antibodies in hepatitis patients
Evaluation of autoimmune liver disease antibodies in hepatitis patients Open
Background/aims Autoimmune hepatitis (AIH) is characterized by the presence of auto-antibodies and high blood immunoglobulin G (IgG) levels. In this study, the line immunoassay (LIA) was designed to assess various autoantibodies. Methods I…
View article: <i>NUP98</i> is rearranged in 5.0% of adult East Asian patients with AML
<i>NUP98</i> is rearranged in 5.0% of adult East Asian patients with AML Open
View article: Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment
Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment Open
Background Risk stratification in multiple myeloma (MM) patients is crucial, and molecular genetic studies play a significant role in achieving this objective. Enrichment of plasma cells for next-generation sequencing (NGS) analysis has be…
View article: Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management
Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management Open
Gene fusions are key drivers in acute leukemia, impacting diagnosis and treatment decisions. We analyzed 264 leukemia patients using targeted RNA sequencing with conventional karyotyping and reverse transcription polymerase chain reaction …
View article: Monitoring measurable residual disease in paediatric acute lymphoblastic leukaemia using immunoglobulin gene clonality based on next-generation sequencing
Monitoring measurable residual disease in paediatric acute lymphoblastic leukaemia using immunoglobulin gene clonality based on next-generation sequencing Open
View article: Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases Open
Importance Despite advances in next-generation sequencing (NGS), a significant proportion of patients with inherited retinal disease (IRD) remain undiagnosed after initial genetic testing. Exome sequencing (ES) reanalysis in the clinical s…
View article: Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes
Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes Open
Introduction Acute myeloid leukemia (AML) is a complex hematologic malignancy characterized by uncontrolled proliferation of myeloid precursor cells within bone marrow. Despite advances in understanding of its molecular underpinnings, AML …
View article: Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy Open
OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.
View article: Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights Open
Background Aplastic anemia (AA), characterized by hematopoietic stem cell deficiency, can evolve into different hematologic malignancies. Our understanding of the genetic basis and mechanisms of this progression remains limited. Methods We…
View article: Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies Open
BACKGROUND: Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecul…
View article: Table S1-S5, Figure S1-S3 from Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer
Table S1-S5, Figure S1-S3 from Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer Open
Table S1-S5, Figure S1-S3
View article: Table S1-S5, Figure S1-S3 from Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer
Table S1-S5, Figure S1-S3 from Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer Open
Table S1-S5, Figure S1-S3