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Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases
  • S. Lee, S. Kim, +5 authors J. Chung
  • Biology, Medicine
  • The Journal of clinical endocrinology and…
  • 12 April 2012
CONTEXT Detection of the BRAF V600E mutation in fine-needle aspiration cytology (FNAC) specimens may increase the value of FNAC. OBJECTIVE The objectives of the study was to compare the diagnosticExpand
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Whole-genome fingerprint of the DNA methylome during human B cell differentiation
We analyzed the DNA methylome of ten subpopulations spanning the entire B cell differentiation program by whole-genome bisulfite sequencing and high-density microarrays. We observed that non-CpGExpand
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Association Study of 27 Annotated Genes for Clozapine Pharmacogenetics: Validation of Preexisting Studies and Identification of a New Candidate Gene, ABCB1, for Treatment Response
  • S. Lee, S. Ryu, +5 authors K. Hong
  • Biology, Medicine
  • Journal of clinical psychopharmacology
  • 1 August 2012
Objective Pharmacogenetic studies on clozapine (CLZ) have provided meaningful insights but have shown redundancies owing to wide interindividual variability and insufficient replication. The presentExpand
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Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
BackgroundWe intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find theExpand
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Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies ofExpand
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Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea.
The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe acute respiratoryExpand
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The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations
The proportion of never smoker non-small cell lung cancer (NSCLC) in Asia is about 30–40%. Despite the striking demographics and high prevalence of never smoker NSCLC, the exact causes still remainExpand
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Epigenetic remodeling in B-cell acute lymphoblastic leukemia occurs in two tracks and employs embryonic stem cell-like signatures
We investigated DNA methylomes of pediatric B-cell acute lymphoblastic leukemias (B-ALLs) using whole-genome bisulfite sequencing and high-definition microarrays, along with RNA expression profiles.Expand
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UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
Background Familial hemophagocytic lymphohistiocytosis is a fatal disease characterized by immune dysregulation from defective function of cytotoxic lymphocytes. Three causative genes have beenExpand
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Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing
TLDR
In this study, we validated the analytical performance of BRCA1/2 sequencing using Ion Torrent's new bench-top sequencer with amplicon panel with optimized bioinformatics pipelines. Expand
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