- Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review
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Yoon JG, Kim MJ, Kwon YJ, Chae JH
- KMID: 2547251
- J Korean Med Assoc.
- 2023 Oct;66(10):613-623.
- doi: 10.5124/jkma.2023.66.10.613
Background: Next-generation sequencing (NGS) technologies have revolutionized genetic testing and enabled efficient screening of various genetic conditions in clinical settings. However, the clinical application of genetic test results presents numerous... -
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- Comparison of Two Variant Analysis Programs for Next-Generation Sequencing Data of Whole Mitochondrial Genome
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Lee SE, Kim GE, Kim H, Chung DH, Lee SD, Kim MY
- KMID: 2545787
- J Korean Med Sci.
- 2023 Sep;38(36):e297.
- doi: 10.3346/jkms.2023.38.e297
Background: With advance of next-generation sequencing (NGS) techniques, the need for mitochondrial DNA analysis is increasing not only in the forensic area, but also in medical fields. Methods: Two commercial programs,... -
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- Value of next‑generation sequencing in inherited arrhythmia syndromes
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Kim M, Kim Y, Lee K, Yoon N, Park H
- KMID: 2546788
- Int J Arrhythm.
- 2023 Sep;24(3):16.
- doi: 10.1186/s42444-023-00097-z
Background Genetic studies are clinically recommended in some cases of inherited arrhythmia syndromes. Nextgeneration sequencing (NGS) would be helpful because of its high analytical throughput and relative speed. This study... -
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- Clinical Significance of bZIP In-Frame CEBPA-Mutated Normal Karyotype Acute Myeloid Leukemia
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Ahn SY, Kim T, Kim M, Song GY, Jung SH, Yang DH, Lee JJ, Kim MY, Jung CW, Jang JH, Kim HJ, Moon JH, Sohn SK, Won JH, Kim SH, Kim HJ, Ahn JS, Kim DDH
- KMID: 2544181
- Cancer Res Treat.
- 2023 Jul;55(3):1011-1022.
- doi: 10.4143/crt.2022.1407
Purpose We evaluated the characteristics of CCAAT/enhancer-binding protein α (CEBPA) mutations and the significance of a basic leucine zipper in-frame mutation (bZIPin-f) of CEBPA in patients with acute myeloid leukemia... -
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- Next-generation sequencing analysis of hepatitis C virus resistance–associated substitutions in direct-acting antiviral failure in South Korea
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Kim KA, Lee S, Park HJ, Jang ES, Lee YJ, Cho SB, Kim YS, Kim IH, Lee BS, Chung WJ, Ahn SH, Kim S, Jeong SH
- KMID: 2541438
- Clin Mol Hepatol.
- 2023 Apr;29(2):496-509.
- doi: 10.3350/cmh.2022.0345
Background/Aims: We used next-generation sequencing (NGS) to analyze resistance-associated substitutions (RASs) and retreatment outcomes in patients with chronic hepatitis C virus (HCV) infection who failed direct-acting antiviral agent (DAA) treatment... -
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- Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology
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Cannarella R, Bertelli M, Condorelli RA, Vilaj M, Vignera SL, Jezek D, Calogero AE
- KMID: 2540975
- World J Mens Health.
- 2023 Apr;41(2):422-433.
- doi: 10.5534/wjmh.220009
Purpose To analyze the presence of potentially pathogenic variants of 29 candidate genes known to cause spermatogenic failure (SPGF) in patients with non-obstructive azoospermia (NOA) who underwent testicular histology. Materials and Methods Forty-eight... -
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- Performance Evaluation of BRCA1/2 Genetic Test Using Next-Generation Sequencing Based on Target Capture Method
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Kim A, Kim JH, Seo SH, Lee S, Lee W, Chun S
- KMID: 2538681
- Lab Med Qual Assur.
- 2022 Dec;44(4):216-225.
- doi: 10.15263/jlmqa.2022.44.4.216
Background: BRCA1 and BRCA2 pathogenic variants are important genetic factors associated with cancers and biomarkers of breast and ovarian cancer. Although Sanger sequencing is regarded as the gold standard... -
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- A genetic approach to comprehend the complex and dynamic event of floral development: a review
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Mohanty JN, Sahoo S, Mishra P
- KMID: 2540168
- Genomics Inform.
- 2022 Dec;20(4):e40.
- doi: 10.5808/gi.21075
The concepts of phylogeny and floral genetics play a crucial role in understanding the origin and diversification of flowers in angiosperms. Angiosperms evolved a great diversity of ways to display... -
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- Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies
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Koh J, Shin SA, Lee JA, Jeon YK
- KMID: 2531609
- J Pathol Transl Med.
- 2022 Jul;56(4):173-186.
- doi: 10.4132/jptm.2022.05.16
Lymphocyte-rich effusions represent benign reactive process or neoplastic condition. Involvement of lymphoproliferative disease in body cavity is not uncommon, and it often causes diagnostic challenge. In this review, we suggest... -
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- A Novel Germline Mutation in DDX41 Predisposed to Myelodysplasia/Acute Myeloid Leukemia
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Kwak MS, Jeong IH, Kim SH, Kim N
- KMID: 2538608
- Lab Med Online.
- 2022 Jul;12(3):209-213.
- doi: 10.47429/lmo.2022.12.3.209
Germline DDX41lesions indicate a hereditary myelodysplastic syndrome and acute myeloid leukemia (MDS/AML). Canonical somatic mutations in this gene often coincide as a second hit with germline DDX41mutations. We report a... -
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- Guidelines for Genetic Counseling and Reporting of Cancer Genetic Test Results: Genetic Test for Hereditary Cancer-predisposing Syndrome Using Next-generation Sequencing
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Kim DH, Kim N, Kong SY
- KMID: 2538600
- Lab Med Online.
- 2022 Jul;12(3):159-168.
- doi: 10.47429/lmo.2022.12.3.159
Genetic counseling and reporting on cancer genetic test results using next-generation sequencing (NGS) are practiced in various ways in different Korean genetic laboratories. Therefore, the Korean Society for Genetic Diagnostics... -
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- Genome characterization and mutation analysis of human influenza A virus in Thailand
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Rattanaburi S, Sawaswong V, Nimsamer P, Mayuramart O, Sivapornnukul P, Khamwut A, Chanchaem P, Kongnomnan K, Suntronwong N, Poovorawan Y, Payungporn S
- KMID: 2531736
- Genomics Inform.
- 2022 Jun;20(2):e21.
- doi: 10.5808/gi.21077
The influenza A viruses have high mutation rates and cause a serious health problem worldwide. Therefore, this study focused on genome characterization of the viruses isolated from Thai patients based... -
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- Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report
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Yu EJ, Kim MJ, Park EA, Hong YS, Park SO, Park SH, Lee YB, Yoon TK, Kang IS
- KMID: 2531190
- J Genet Med.
- 2022 Jun;19(1):14-21.
- doi: 10.5734/JGM.2022.19.1.14
Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of... -
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- Detection of ASXL1 Codon 646 Variant Using Amplicon-Based Next-Generation Sequencing
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Kim M, Kim NY, Hong S, Lee J, Cho Y, Kim HS, Kang HJ, Lee YK
- KMID: 2531122
- Lab Med Qual Assur.
- 2022 Jun;44(2):76-81.
- doi: 10.15263/jlmqa.2022.44.2.76
Background: The ASXL1 codon 646 variant is the most common ASXL1 variant that negatively impacts the prognoses of patients with myeloid malignancies, particularly those with myelodysplastic syndromes and acute myeloid... -
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- Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
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Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, Pal PK
- KMID: 2530222
- J Mov Disord.
- 2022 May;15(2):156-161.
- doi: 10.14802/jmd.21146
Objective With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES)... -
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- De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report
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Jang H, Won D, Shin S, Lee ST, Choi JR, Lee JS
- KMID: 2538597
- Lab Med Online.
- 2022 Apr;12(2):134-137.
- doi: 10.47429/lmo.2022.12.2.134
Early infantile epileptic encephalopathy (EIEE) is a group of brain disorders characterized by spontaneous seizures occurring at an early age. EIEE is caused by mutations in various genes, including HCN1.... -
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- Identification of a de novo ANK1 Variant in a Patient with Hereditary Spherocytosis on Multi-gene Panel Testing
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Yoon SJ, Cho EH, Woo HY, Park H, Jung HL, Kwon MJ
- KMID: 2538585
- Lab Med Online.
- 2022 Jan;12(1):58-62.
- doi: 10.47429/lmo.2022.12.1.58
Hereditary spherocytosis (HS) is caused by defects in red blood cell membrane components encoded by SPTA1, SPTB, ANK1, SLC4A1, and EPB42. The low sensitivity and specificity of conventional tests such... -
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- JAK2V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases
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Lee Y, Lee JY, Lee JO, Bang SM, Hwang SM
- KMID: 2538584
- Lab Med Online.
- 2022 Jan;12(1):53-57.
- doi: 10.47429/lmo.2022.12.1.53
Although the JAK2V617F mutation is a common genetic basis for the BCR-ABL1-negative myeloproliferative neoplasm (MPN), it is very rarely observed in acute myeloid leukemia (AML) without antecedent MPN. While JAK2V617F... -
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- Recommendations for the Use of Next-Generation Sequencing and the Molecular Tumor Board for Patients with Advanced Cancer: A Report from KSMO and KCSG Precision Medicine Networking Group
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Yoon S, Kim M, Hong YS, Kim HS, Kim ST, Kim J, Yun H, Yoo C, Ahn HK, Kim HS, Lee IH, Kim IH, Park I, Jeong JH, Cheon J, Kim JW, Yun J, Lim SM, Cha Y, Jang SJ, Zang DY, Kim TW, Kang JH, Kim JH
- KMID: 2524582
- Cancer Res Treat.
- 2022 Jan;54(1):1-9.
- doi: 10.4143/crt.2021.1115
Next-generation sequencing (NGS) is becoming essential in the fields of precision oncology. With implementation of NGS in daily clinic, the needs for continued education, facilitated interpretation of NGS results and... -
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- Detection of TERT Promoter Mutations Using Targeted Next-Generation Sequencing: Overcoming GC Bias through Trial and Error
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Lee H, Lee B, Kim DG, Cho YA, Kim JS, Suh YL
- KMID: 2524589
- Cancer Res Treat.
- 2022 Jan;54(1):75-83.
- doi: 10.4143/crt.2021.107
Purpose Detection of telomerase reverse transcriptase (TERT) promoter mutations is a crucial process in the integrated diagnosis of glioblastomas. However, the TERT promoter region is difficult to amplify because of... -
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