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Multidimensional Early Prediction Score for Drug-Resistant Epilepsy

Kang KW, Cho YW, Lee SK, Jung KY, Kim JH, Kim DW, Lee SA, Hong SB, Na IS, Lee SH, Baek WK, Choi SY, Kim MK

Background and Purpose Achieving favorable postoperative outcomes in patients with drug-resistant epilepsy (DRE) requires early referrals for preoperative examinations. The purpose of this study was to investigate the possibility of...
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MPI-GWAS: a supercomputing-aided permutation approach for genome-wide association studies

Paik H, Cho Y, Cho SB, Kwon OK

Permutation testing is a robust and popular approach for significance testing in genomic research that has the advantage of reducing inflated type 1 error rates; however, its compu-tational cost is...
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Regulation of Pancreatic β-Cell Mass by Gene-Environment Interaction

Asahara Si, Inoue H, Kido Y

The main pathogenic mechanism of diabetes consists of an increase in insulin resistance and a decrease in insulin secretion from pancreatic β-cells. The number of diabetic patients has been increasing...
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Prediction of clinically significant prostate cancer using polygenic risk models in Asians

Song SH, Kim E, Woo E, Kwon E, Yoon S, Kim JK, Lee H, Oh JJ, Lee S, Hong SK, Byun SS

Purpose: To develop and evaluate the performance of a polygenic risk score (PRS) constructed in a Korean male population to predict clinically significant prostate cancer (csPCa). Materials and Methods: Total 2,702...
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Absolute Neutrophil Count after the First Chemotherapy Cycle as a Surrogate Marker for Treatment Outcomes in Patients with Neuroblastoma

Lee JW, Bae JS, Kim JH, Cho HW, Ju HY, Yoo KH, Koo HH, Woo Sy, Kim S, Sung KW

Purpose We performed this study to determine whether the degree of neutropenia after the first chemotherapy cycle can be used as a surrogate marker of individual susceptibility to chemotherapeutic agents...
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Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population

Jang HM, Hwang MY, Kim BJ, Kim YJ

Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results...
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Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study

Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, Kwon SH, Ahn SE, Do AR, Jin H, Won S, Park DJ, Shin CS, Seo JH

Background: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less...
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Clinical, Radiographic, and Genetic Analyses in a Population-Based Cohort of Adult Spinal Deformity in the Older Population

Shin JJ, Kim B, Kang J, Choi J, Moon BJ, Ryu DS, Yoon SH, Chin DK, Lee JK, Kim KN, Ha Y

Objective: This study aimed to identify the sagittal parameters associated with health-related quality of life and genetic variations that increase the risk of adult spinal deformity (ASD) onset in the...
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Polygenic Risk Scores for Bipolar Disorder in Korean Populations in Comparison to European Populations

Choi MJ, Lee DB, Cho Y, Cho EY, Hong KS, Baek JH

Objectives This study examined whether the polygenic risk score (PRS) calculated from the most recent genome-wide association study for bipolar disorder (BD) of European ancestry patients is significantly associated with...
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Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome

Lee AJ, Jung I

Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung...
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Harnessing genome-wide association studies to minimize adverse radiation-induced side effects

Benitez CM, Knox SJ

Radiotherapy is used as definitive treatment in approximately two-thirds of all cancers. However, like any treatment, radiation has significant acute and long-term side effects including secondary malignancies. Even when similar...
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Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults

Kong SH, Yoon JW, Kim JH, Park J, Choi J, Lee JH, Hong AR, Cho NH, Shin CS

Background: As the genetic variants of trabecular bone microarchitecture are not well-understood, we performed a genome-wide association study to identify genetic determinants of bone microarchitecture analyzed by trabecular bone score...
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Comparison of Polygenic Risk for Schizophrenia between European and Korean Populations

Lee J, Lee D, Cho EY, Baek JH, Hong KS

Objectives: This study aimed to explore whether common genetic variants that confer the risk of schizophrenia have similar effects between Korean and European ancestries using the polygenic risk score (PRS)...
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Insight into the pathogensis of polycystic ovarian syndrome

Jung YW, Lee GH, Han YJ, Cha DH

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/ anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS...
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HisCoM-PCA: software for hierarchical structural component analysis for pathway analysis based using principal component analysis

Jiang N, Lee S, Park T

In genome-wide association studies, pathway-based analysis has been widely performed to enhance interpretation of single-nucleotide polymorphism association results. We proposed a novel method of hierarchical structural component model (HisCoM) for...
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Two-sample Mendelian randomization study for schizophrenia and breast cancer

Kim S, Kim K, Myung W, Lee H, Kim H, Kim DK, Won HH

Purpose: The purpose of this study was to investigate whether the risk of schizophrenia is causally associated with the risk of breast cancer. Methods: Bidirectional two-sample Mendelian randomization (TSMR) was performed...
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Genetics of Treatment Outcomes in Major Depressive Disorder: Present and Future

Fabbri C, Serretti A

Pharmacogenetic testing is a useful and increasingly widespread tool to assist in antidepressant prescription. More than ten antidepressants (including tricyclics, selective serotonin reuptake inhibitors and venlafaxine) have already genetic biomarkers...
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Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations

Cresci S, Zhang R, Yang Q, Duncan MS, Xanthakis , Jiang X, Vasan RS, Schaffer J, Peterson L

OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are...
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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

Choi JY, Jang HM, Han S, Hwang MY, Kim BJ, Kim YJ

Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European...
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Pure additive contribution of genetic variants to a risk prediction model using propensity score matching: application to type 2 diabetes

Park C, Jiang N, Park T

The achievements of genome-wide association studies have suggested ways to predict diseases, such as type 2 diabetes (T2D), using single-nucleotide polymorphisms (SNPs). Most T2D risk prediction models have used SNPs...
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