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Your search keyword '"Si-Woo Lee"' showing total 4 results
Start Over Author "Si-Woo Lee" Journal bmc genomics
4 results on '"Si-Woo Lee"'

1. Identification of five novel genetic loci related to facial morphology by genome-wide association studies

Author

Nam H. Cho, Jong Yeol Kim, Bermseok Oh, Jun Hyeong Do, Jong-Sik Kim, Kwang Man Woo, Ji Eun Lim, Seung Hwan Lee, Jeong Min Nam, Chol Shin, Ah Yeon Park, Si-Woo Lee, Seongwon Cha, and Ji One Kang

Subjects
0301 basic medicine, Male, lcsh:QH426-470, Genotype, DHX35, lcsh:Biotechnology, Single-nucleotide polymorphism, Genome-wide association study, Locus (genetics), Korean, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Gene Frequency, lcsh:TP248.13-248.65, HOXD1-MTX2, Genetics, medicine, Humans, GWAS, Genetic Predisposition to Disease, WDR27, Allele, Allele frequency, Gene, Aged, Homeodomain Proteins, SOX9 Transcription Factor, Middle Aged, medicine.disease, Campomelic dysplasia, lcsh:Genetics, 030104 developmental biology, Phenotype, Genetic Loci, Female, Cranioectodermal Dysplasia, OSR1-WDR35, Face morphology, SOX9, Biotechnology, Genome-Wide Association Study, Research Article
Abstract

Background Face morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association study (GWAS) of 85 face morphological traits in 7569 Koreans (5643 in the discovery set and 1926 in the replication set). Results In this study, we analyzed 85 facial traits, including facial angles. After discovery GWAS, 128 single nucleotide polymorphisms (SNPs) showing an association of P

Published
2017

2. Copy number variations (CNVs) identified in Korean individuals

Author

Tae-Wook Kang, Jong Yeol Kim, Jong-Lyul Park, Seon-Young Kim, Hee Jin Kim, Yong Sung Kim, Yeo-Jin Jeon, Jeong-Hwan Kim, Eun-Su Jang, and Si-Woo Lee

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, endocrine system diseases, lcsh:Biotechnology, Gene Dosage, Biology, Gene dosage, Structural variation, 03 medical and health sciences, Asian People, lcsh:TP248.13-248.65, mental disorders, Genetic variation, Genetics, Humans, Copy-number variation, International HapMap Project, Oligonucleotide Array Sequence Analysis, 030304 developmental biology, 0303 health sciences, Korea, Genome, Human, Korean population, 030305 genetics & heredity, Genetic Variation, lcsh:Genetics, Genetics, Population, Human genome, DNA microarray, Research Article, Biotechnology
Abstract

Background Copy number variations (CNVs) are deletions, insertions, duplications, and more complex variations ranging from 1 kb to sub-microscopic sizes. Recent advances in array technologies have enabled researchers to identify a number of CNVs from normal individuals. However, the identification of new CNVs has not yet reached saturation, and more CNVs from diverse populations remain to be discovered. Results We identified 65 copy number variation regions (CNVRs) in 116 normal Korean individuals by analyzing Affymetrix 250 K Nsp whole-genome SNP data. Ten of these CNVRs were novel and not present in the Database of Genomic Variants (DGV). To increase the specificity of CNV detection, three algorithms, CNAG, dChip and GEMCA, were applied to the data set, and only those regions recognized at least by two algorithms were identified as CNVs. Most CNVRs identified in the Korean population were rare ( Conclusion CNVs are recently-recognized structural variations among individuals, and more CNVs need to be identified from diverse populations. Until now, CNVs from Asian populations have been studied less than those from European or American populations. In this regard, our study of CNVs from the Korean population will contribute to the full cataloguing of structural variation among diverse human populations.

Published
2008
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3. A genome-wide scan for signatures of directional selection in domesticated pigs.

Author

Sunjin Moon, Tae-Hun Kim, Kyung-Tai Lee, Woori Kwak, Taeheon Lee, Si-Woo Lee, Myung-Jick Kim, Kyuho Cho, Namshin Kim, Won-Hyong Chung, Samsun Sung, Taesung Park, Seoae Cho, Groenen, Martien A. M., Nielsen, Rasmus, Yuseob Kim, and Heebal Kim

Subjects
DOMESTICATION of animals, SWINE breeding, HAPLOTYPES, METABOLOMICS, GLUTAMATE receptors
Abstract

Background: Animal domestication involved drastic phenotypic changes driven by strong artificial selection and also resulted in new populations of breeds, established by humans. This study aims to identify genes that show evidence of recent artificial selection during pig domestication. Results: Whole-genome resequencing of 30 individual pigs from domesticated breeds, Landrace and Yorkshire, and 10 Asian wild boars at ~16-fold coverage was performed resulting in over 4.3 million SNPs for 19,990 genes. We constructed a comprehensive genome map of directional selection by detecting selective sweeps using an FST-based approach that detects directional selection in lineages leading to the domesticated breeds and using a haplotype-based test that detects ongoing selective sweeps within the breeds. We show that candidate genes under selection are significantly enriched for loci implicated in quantitative traits important to pig reproduction and production. The candidate gene with the strongest signals of directional selection belongs to group III of the metabolomics glutamate receptors, known to affect brain functions associated with eating behavior, suggesting that loci under strong selection include loci involved in behaviorial traits in domesticated pigs including tameness. Conclusions: We show that a significant proportion of selection signatures coincide with loci that were previously inferred to affect phenotypic variation in pigs. We further identify functional enrichment related to behavior, such as signal transduction and neuronal activities, for those targets of selection during domestication in pigs. [ABSTRACT FROM AUTHOR]

Published
2015
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4. Identification of five novel genetic loci related to facial morphology by genome-wide association studies

Author

Seongwon Cha, Ji Eun Lim, Ah Yeon Park, Jun-Hyeong Do, Si Woo Lee, Chol Shin, Nam Han Cho, Ji-One Kang, Jeong Min Nam, Jong-Sik Kim, Kwang-Man Woo, Seung-Hwan Lee, Jong Yeol Kim, and Bermseok Oh

Subjects
Face morphology, GWAS, Korean, OSR1-WDR35, HOXD1-MTX2, WDR27, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Face morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association study (GWAS) of 85 face morphological traits in 7569 Koreans (5643 in the discovery set and 1926 in the replication set). Results In this study, we analyzed 85 facial traits, including facial angles. After discovery GWAS, 128 single nucleotide polymorphisms (SNPs) showing an association of P

Published
2018
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