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Articles by Jong Rak
Allelic Cataloging of RHD-RHCE Reference Sequences Using Targeted Long-Read Sequencing
Junhyup Song, Soon Sung Kwon, Eun Jung Suh, Hyun Kyung Kim, Jong Rak Choi, Dae-Hyun Ko, Sinyoung Kim, Allelic Cataloging of RHD–RHCE Reference Sequences Using Targeted Long-Read Sequencing, Clinical Chemistry, Volume 71, Issue 10, October 2025, Pages 1067–1082, https://doi.org/10.1093/clinchem/hvaf090 Close You do not currently have access to this article.
Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads - Cancer Cell International
The study included 31 patients undergoing bone marrow evaluation for suspected PCN. Bone marrow aspirate collected in sodium heparin tubes was centrifuged at 1,000 g for 5 min to separate the cellular components. The cell pellet was separated using a serum separating tube, then aliquoted into a 15 mL tube and resuspended by vortexing before being divided in half for FACS- and MACS-sorting.
Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment - Cancer Cell International
Our primary objective was to determine whether ultrahigh-depth NGS sequencing with the Piseq algorithm could effectively detect meaningful variants in MM without the need for plasma cell enrichment (PiSeq-MM). To achieve this, we conducted NGS using BMA samples without performing the enrichment step. Our study cohort consisted of six MM patients who had previously undergone conventional NGS using PC. For the analysis, we used the same targeted NGS panel of 742 genes.
Monitoring measurable residual disease in paediatric acute lymphoblastic leukaemia using immunoglobulin gene clonality based on next-generation sequencing | Cancer Cell International | Full Text
Of the 93 patients enrolled in this study, 51 were assigned to the SR group and 42 to the HR group. Patient and disease characteristics are summarised in Table 1. After the induction phase, 12 patients were reclassified according to remission status and genetic mutation, with 10 SR patients (19.6%) transitioning to the HR group and 2 h patients reassigned to the SR group. Remission was not achieved in 1 h group patient (2.4%). Fifteen patients (16.1%) underwent HSCT.
Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes - Cancer Cell International
References Grove CS, Vassiliou GS. Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer? Dis Models Mech. 2014;7(8):941–51. Article Google Scholar Reville PK, Kadia TM. Maintenance therapy in AML. Front Oncol. 2020;10:619085. Article PubMed Google Scholar Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, Ritchey JK, Young MA, Lamprecht T, McLellan MD, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 2012;481(7382):506–10.
Serial circulating-tumor DNA analysis with a tumor naïve next-generation sequencing panel detects minimal residual disease and predicts outcome in ovarian cancer
Circulating tumor DNA (ctDNA) may aid in personalizing ovarian cancer therapeutic options. Here, we aimed to assess the clinical utility of serial ctDNA testing using tumor-naïve, small-sized next-generation sequencing (NGS) panels. A total of 296 patients, including 201 with ovarian cancer and 95 with benign or borderline disease, were enrolled. Samples were collected at baseline (initial diagnosis or surgery) and every 3 months after that, resulting in a total of 811 blood samples.
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
BMC Medical Genomics, Sep 2023 Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to membranopathies, enzymopathies, or hemoglobinopathies. Because these are genetic disorders, incorporation of next-generation sequencing (NGS) has facilitated the diagnostic process of HHA.
Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing 1College of Medicine, Yonsei University, Republic of Korea This article is a correction to: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing Read original article The final, formatted version of the article will be published soon.
Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing - Cancer Cell International
Rebecca L, Siegel KDM, Ahmedin Jemal DVM. Cancer Statistics, 2019. CA CANCER J CLIN. 2019;69:7–34. Article Google Scholar Ghalesardi OK, Khosravi A, Azizi E, Ahmadi SE, Hajifathali A, Bonakchi H, Shahidi M. The prognostic importance of BCR-ABL transcripts in chronic myeloid leukemia: a systematic review and meta-analysis. Leuk Res. 2021;101:106512. Article CAS PubMed Google Scholar Pophali PA, Patnaik MM. The role of new tyrosine kinase inhibitors in chronic myeloid leukemia. Cancer J (Sudbury Mass).
Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer
Patient-specific molecular alterations leading to PARP inhibitor (PARPi) resistance are relatively unexplored. In this study, we analyzed serially collected circulating tumor DNA (ctDNA) from patients with BRCA1/2 mutations who received PARPis to investigate the resistance mechanisms and their significance in postprogression treatment response and survival. Patients were prospectively enrolled between January 2018 and December 2021 (NCT05458973).
Investigation of poly ADP-ribose polymerase inhibitor resistance based on serially collected circulating tumor DNA in patients with BRCA-mutated ovarian cancer
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 BRCA1/2 mutations who received PARPis to investigate the resistance mechanisms and their significance in post-progression treatment response and survival.
In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas
Jin Ju Kim1, Hyun-Young Kim2, Zisun Choi3, So yoon Hwang3, Hansol Jeong3, Jong Rak Choi1, 3, Sang Eun Yoon4, Won Seog Kim4, 5, Sun-Hee Kim2, Hee-Jin Kim2, Sang-Yong Shin6*, Seung-Tae Lee1* and Seok Jin Kim4* 1Department of Laboratory Medicine, College of Medicine, Yonsei University, Republic of Korea 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University, Republic of Korea 3Dxome Co.Ltd, Republic of Korea 4Division of Haematology and Oncology,...
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