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Molecular Characterization of 170 New gDNA-SSR Markers for Genetic Diversity in Button Mushroom (Agaricus bisporus)

An H, Jo IH, Oh YL, Jang KY, Kong WS, Sung JK, So YS, Chung JW

We designed 170 new simple sequence repeat (SSR) markers based on the whole-genome sequence data of button mushroom (Agaricus bisporus), and selected 121 polymorphic markers. A total of 121 polymorphic...
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Detection of KRAS mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers

Min S, Shin S, Chung YJ

Robust identification of genetic alterations is important for the diagnosis and subsequent treatment of tumors. Screening for genetic alterations using tumor tissue samples may lead to biased interpretations because of...
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Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies

Kim H, Yun JW, Lee ST, Kim HJ, Kim SH, Kim JW, The Korean Society for Genetic Diagnostics Clinical Guidelines Committee

Next-generation sequencing (NGS) is currently used in the clinical setting for targeted therapies and diagnosis of hematologic malignancies. Accurate detection of somatic variants is challenging because of tumor purity, heterogeneity,...
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Current Aspects of Clonal Hematopoiesis: Implications for Clinical Diagnosis

Karner K, George TI, Patel JL

The broad dissemination of next-generation sequencing capability has increased recognition of clonal hematopoiesis in various clinical settings. In hematologically normal individuals, somatic mutations may occur at an increasing frequency with...
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NR3C1 Polymorphisms for Genetic Susceptibility to Schizophrenia

Park JS, Lee SM, Kim JW, Kang WS

OBJECTIVES: Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3...
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Distribution of adeG, adeB, adeE, adeY, abeM, and adeJ Efflux Pump Genes in Clinical Isolates of Acinetobacter Species from Korea

Choi IS, Choi JA, Jang SJ, Park G, Jeong SH, Kim CM, Lee OJ, Kang SH, Moon DS

BACKGROUND: The aim of the present study was to determine the frequency of six efflux pump genes in Acinetobacter clinical isolates collected from South Korean hospitals. METHODS: In this study, we...
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Analysis of vitamin D-binding protein (VDBP) gene polymorphisms in Korean women with and without endometriosis

Cho MC, Kim JH, Jung MH, Cho IA, Jo HC, Shin JK, Lee SA, Choi WJ, Lee JH

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We...
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Enrichment of rare alleles within epigenetic chromatin marks in the first intron

Jo SS, Choi SS

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first...
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Effect of Single-Nucleotide Polymorphisms on Decline of Dopamine Transporter Availability in Parkinson's Disease

Shin S, Kim K, Lee JM, Kim EJ, Kim SJ, Kim IJ, Pak K, Lee MJ

BACKGROUND AND PURPOSE: We aimed to determine the association between the annual changes in dopamine transporter (DAT) availability as measured by 123I-ioflupane (123I-FP-CIT) single-photon-emission computed tomography and single-nucleotide polymorphisms (SNPs)...
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Rare Mechanism of Acquired Resistance to Osimertinib in Korean Patients with EGFR-mutated Non-small Cell Lung Cancer

Lee J, Shim JH, Park WY, Kim HK, Sun JM, Lee SH, Ahn JS, Park K, Ahn MJ

Epidermal growth factor receptor (EGFR)‒tyrosine kinase inhibitors (TKIs) are effective clinical therapeutics for EGFR-mutant non-small cell lung cancer (NSCLC). Osimertinib, a thirdgeneration EGFR TKI, has proven effective against T790M mutations....
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Development of Polymorphic Simple Sequence Repeat Markers using High-Throughput Sequencing in Button Mushroom (Agaricus bisporus)

Lee HY, Raveendar , An H, Oh YL, Jang KY, Kong WS, Ryu H, So YS, Chung JW

The white button mushroom (Agaricus bisporus) is one of the most widely cultivated species of edible mushroom. Despite its economic importance, relatively little is known about the genetic diversity of...
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Detection of Innate and Artificial Mitochondrial DNA Heteroplasmy by Massively Parallel Sequencing: Considerations for Analysis

Kim MY, Cho S, Lee JH, Seo HJ, Lee SD

BACKGROUND: Mitochondrial heteroplasmy, the co-existence of different mitochondrial polymorphisms within an individual, has various forensic and clinical implications. But there is still no guideline on the application of massively parallel...
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TSLP Polymorphisms in Atopic Dermatitis and Atopic March in Koreans

Heo WI, Park KY, Lee MK, Moon NJ, Seo SJ

BACKGROUND: Atopic march (AM) is the progression from atopic dermatitis (AD) to allergic rhinitis and asthma. The development of AD is as high as 20% in children worldwide and continues...
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The Fas Signaling Pathway Is a Common Genetic Risk Factor for Severe Cutaneous Drug Adverse Reactions Across Diverse Drugs

Park HW, Kim SH, Chang YS, Kim SH, Jee YK, Lee AY, Jang IJ, Park HS, Min KU

PURPOSE: Human leukocyte antigen (HLA) has been recognized as the most important genetic risk factor for severe cutaneous adverse drug reactions (SCARs) caused by certain drugs. However, cumulated observations suggest...
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Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans

Heo WI, Park KY, Lee MK, Kim JH, Moon NJ, Seo SJ

BACKGROUND: Atopic dermatitis (AD) has increased in frequency to rates as high as 20% for children in developed countries. AD is one of the most common childhood diseases and has...
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Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Shim JO, Yang HR, Moon JS, Chang JY, Ko JS, Park SS, Seo JK

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful...
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The Allele 2 of the VNTR Polymorphism in the Gene That Encodes a Natural Inhibitor of IL-1β, IL-1RA Is Favorably Associated With Chronic Otitis Media

Živković M, Kolić I, Jesić S, Jotić A, Stanković A

OBJECTIVES: Chronic otitis media (COM) is followed by irreversible tissue damage and destruction of the middle ear structures, with the possibility of complications under the maintenance of inflammation. Inflammatory mediators...
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Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population

Bae Y, Shin D, Nam J, Lee HR, Kim JS, Kim KY, Kim DS, Chung YJ

PURPOSE: Kawasaki disease (KD) is a mucocutaneous lymph node syndrome. It is mainly seen in young children under the age of five. KD is a multifactorial disorder that includes genetic...
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Correlations of Four Genetic Single Nucleotide Polymorphisms in Brain-Derived Neurotrophic Factor with Posttraumatic Stress Disorder

Guo JC, Yang YJ, Guo M, Wang XD, Juan Y, Gao YS, Fu LQ, Jiang XL, Fu LM, Huang T

OBJECTIVE: To investigate the correlations of four genetic single nucleotide polymorphisms (SNPs) of brain-derived neurotrophic factor (BDNF) with posttraumatic stress disorder (PTSD). METHODS: A total of 300 patients with sporadic PTSD...
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Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms

Lee E, Lee KJ, Park H, Chung JY, Lee MN, Chang MH, Yoo J, Lee H, Kong SY, Eom HS

BACKGROUND: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and...
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