• Clinical and Experimental Pediatrics
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• 제63권6호
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• pp.195-202
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• 2020

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy-guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a firsttier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

• Genomics & Informatics
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• 제20권4호
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• pp.48.1-48.7
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• 2022

Penalized regression has been widely used in genome-wide association studies for joint analyses to find genetic associations. Among penalized regression models, the least absolute shrinkage and selection operator (Lasso) method effectively removes some coefficients from the model by shrinking them to zero. To handle group structures, such as genes and pathways, several modified Lasso penalties have been proposed, including group Lasso and sparse group Lasso. Group Lasso ensures sparsity at the level of pre-defined groups, eliminating unimportant groups. Sparse group Lasso performs group selection as in group Lasso, but also performs individual selection as in Lasso. While these sparse methods are useful in high-dimensional genetic studies, interpreting the results with many groups and coefficients is not straightforward. Lasso's results are often expressed as trace plots of regression coefficients. However, few studies have explored the systematic visualization of group information. In this study, we propose a multi-level polar Lasso (MP-Lasso) chart, which can effectively represent the results from group Lasso and sparse group Lasso analyses. An R package to draw MP-Lasso charts was developed. Through a real-world genetic data application, we demonstrated that our MP-Lasso chart package effectively visualizes the results of Lasso, group Lasso, and sparse group Lasso.

• Journal of Microbiology
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• 제34권2호
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• pp.117-123
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• 1996

Restriction-polymorphic patterns of nuclear-ITS were examined for the genetic relationships among 12 bisidiomycetous mushrooms to Aphyllophorales and Agaricales. The taxonomic affinity of Ganoderma species with the family Polyporaceae also was examined. With 13 restriction endonucleases, 159 restriction characters were generated form the 12 species examined. UPGMA and neighbor-joining analyses separated the 12 species into two genetically distinct groups that correspond to orders (Agaricales and Aphyllophorales) where each species is included. This result indicates that there is clear genetic demarcation between Agaricales and Aphyllophorales. Dendrograms constructed by several data analyses showed that even though Ganoderma species are somewhat in intermediate taxonomic position between the Polyporaceae and families of the Agaricales, they are genetically more related to the Polyporaceae. These results are consistent with morphological characters observed in those mushrooms. However, it is premature to conclude taxonomic status Ganoderma species in the present study employing small sample size.

• 한국자원식물학회지
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• 제22권5호
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• pp.446-453
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• 2009

동아시아에 분포하는 콩과에 속하는 칡 1종의 13집단과 근연분류군 2종의 4집단 등 총 17개의 개체군에 대하여 유전적 유연관계 및 종간 특이적인 분류학적으로 유용한 분자마커를 알아보기 위해 RAPD 분석을 실시하였다. 15개의 oligo primer를 이용한 효소중합반응을 통해 증폭된 RAPD 절편들은 200 bp에서 2,800 bp 사이의 구간에서 관찰되었다. 이중 유효한 polymorphic band makers는 총 208개, monomorphic bands는 3개를 확인하였으며, 칡의 종 특이적 분자마커는 4개로 확인되었다. 이러한 자료에 근거하여 칡속의 17개 개체군 집단에 대한 UPGMA 분석을 실시하였다. 도출된 UPGMA phenogram에서 한국산 칡 9개체군과 국외산 칡 3개체군이 각각 독립적인 두 개의 작은 유집군을 형성하였으며, 이후 두 유집군이 하나로 크게 유집되어 다른 칡 근연분류군과는 뚜렷하게 구분되었다. 따라서 RAPD 분석은 칡과 근연분류군간의 유연관계 분석 및 한국산과 국외산 집단의 원산지판별에 매우 유용한 분자마커로 생각된다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.212-212
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• 2022

Soluble starch synthase (SS) IV-2 is one of the starch synthase gene family members and responsible for starch chain elongation interacting with other rice eating and cooking quality controlling genes (e.g., AGPlar and PUL). SSIV-2 is mainly expressed in leaves, especially at grain-filling stage and its alleles can significantly affect rice quality. Here, we investigated the genetic diversity and population structure analyses of SSIV-2 gene by using 374 rice accessions. This rice set was grouped into 320 cultivated bred (subsequently classified into temperate japonica, indica, tropical japonica, aus, aromatic and admixture) and 54 wild rice. Haplotyping of cultivated rice accessions provided a total of 7 haplotypes, and only three haplotypes are functional indicating four substituted SNPs in two exons of chromosome 5: T/A and G/T in exon 4, and C/G and G/A in exon 13. Including the wild, a highest diverse group (0.0041), nucleotide diversity analysis showed temperate japonica (0.0001) had a lowest diversity value indicating the origin information of this gene evolution. Higher and positive Tajima5s D value of indica (1.9755) indicate a selective signature under balancing selection while temperate japonica (-0.9018) was in lowest Tajima's D value due to a recent selective sweep by positive selection. We found the most diverse genetic components of the wild in PCA but shared in some portion with other cultivated groups. Fixation index (F_ST-values) and phylogenetic analysis indicate a closer relationship of the wild with indica (F_ST=0.256) than to its association to both of temperate japonica (F_ST=0.589). Structure analysis shows a clear separation of cultivated subpopulations at every K value, but genetic components were admixed within the wild illustrating the same genetic background with japonica and indica in some proportion.

• Asian-Australasian Journal of Animal Sciences
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• 제29권6호
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• pp.793-800
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• 2016

Most hinnies (female donkey${\times}$male horse) and mules (female horse${\times}$male donkey) are sterile with few reports of equine fertile hybrids. The main cause of this sterility is thought to be a meiotic block to spermatogenesis and oogenesis. This study compared the developmental features of the testes and a histological analyses of spermatogenesis in a male hinny with those of a normal, fertile stallion and Jack donkey. Hinny testes showed a thicker tunica albuginea, fewer blood vessels and more connective tissue in the testis parenchyma than those of the stallion and Jack donkey. Although the mean number of seminiferous tubules was significantly higher in stallion and hinny than Jack donkey (p<0.01), the mean proportion of seminiferous tubules was lower in the hinny (p<0.01) which resulted in a smaller diameter of seminiferous tubules. The mean number of spermatogonia and spermatocytes per unit area were significantly lower in hinny testis (p<0.01) and no spermatids or mature spermatozoa cells were found during immunofluorescent analyses. These results indicated that defects in seminiferous tubule development and structure occur in the testis of hinnies. Furthermore, most spermatogonia and spermatocytes cease development in synapsis during mid-meiosis of spermatocytes, which results in a block to spermatogenesis that prevents the formation of spermatids and matured spermatozoa during meiosis in male hinnies.

• Genomics & Informatics
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• 제11권3호
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• pp.135-141
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• 2013

Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO) terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait ($p_{corr}$ < 0.05). Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

• Geomechanics and Engineering
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• 제34권5호
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• pp.561-575
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• 2023

This study investigates to provide a fast solution to the problem of bearing capacity in layered soils with easily obtainable parameters that does not require the use of any charts or calculations of different parameters. Therefore, a hybrid approach including both the finite element (FE) method and machine learning technique have been applied. Firstly, a FE model has been generated which is validated by the results of in-situ loading tests. Then, a total of 192 three-dimensional FE analyses have been performed. A data set has been created utilizing the soil properties, footing sizes, layered conditions used in the FE analyses and the ultimate bearing capacity values obtained from the FE analyses to be used in multigene genetic programming (MGGP). Problem has been modeled with five input and one output parameter to propose a bearing capacity formula. Ultimate bearing capacity values estimated from the proposed formula using data set consisting of 20 data independent of total data set used in MGGP modelling have been compared to the bearing capacities calculated with semi-empirical methods. It was observed that the MGGP method yielded successful results for the problem considered. The proposed formula provides reasonable predictions and efficient enough to be used in practice.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.215-215
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• 2022

Starch synthase proteins (SSI, SSII and SSIII) in rice are mainly involved in amylopectin synthesis mediating its chain elongation, and the functional loss of SSII can increase amylose accumulation through decreasing of amylopectin chain proportions. For purposes of identifying functional haplotypes and evolutionary analyses of this gene, SSII-1, we investigated 374 rice accessions belonging to different subgroups of origins. We subsequently performed bioinformatic analyses on their variations through haplotyping, resequencing and structuring based on different classified populations. Haplotyping of cultivated rice accessions using genetic variations within SSII-1 genomic region of chromosome 10 revealed a total of 8 haplotypes, representing 6 functional haplotypes by 4 non-synonymous SNPs of three different exons (1, 4 and 10), which effect on protein structure. Higher nucleotide diversity value was found in wild group (0.0055) compared to any of cultivated subpopulations, of which aus showed the most reduction of diversity value (0.0003). Tajima's D analysis exhibits the most Tajima's D value only in admixture group (0.3600) which appears to be the cause of a sudden population contraction by rare alleles scarcity. A clear separation of some wild accessions from the admixed cultivated subpopulations was observed in PCA and phylogenetic analysis. Similar admixed pattern of population structure was estimated with an increased K values of 2 to 8 where genetic components of almost all cultivated subpopulations were shared with the wild which can also be subsequently estimated by very low F_ST-values by -0.011 (wild-aromatic) and -0.003 (wild-admixture).

• Journal of Korean Neurosurgical Society
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• 제57권6호
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• pp.422-427
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• 2015

Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.