Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual's genome information is utilized for clinical practice. The most spectacular results of the human genome study have been provided by genome-wide association studies (GWASs). This is a review of the history of GWASs as related to my work. Further efforts are necessary to make full use of its potential power to medicine.
Genetic Research ; Genome ; Genome, Human ; Genome-Wide Association Study ; HapMap Project ; Human Genome Project ; Humans

Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
Epidemiologic Studies ; Ethnic Groups ; Genetic Research ; Genetics ; Genome ; Genome, Human ; Genomics ; Human Genome Project ; Humans ; Humans ; Information Dissemination

Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
Epidemiologic Studies ; Ethnic Groups ; Genetic Research ; Genetics ; Genome ; Genome, Human* ; Genomics ; Human Genome Project* ; Humans ; Humans* ; Information Dissemination

BACKGROUND: With the progress of the Human Genome Project, genetic testing has become widely available and useful for the confirmation and treatment planning of various conditions. Additionally, the need for genetic counseling and consultation service has been increasing. We tried to establish and manage a medical genetic clinic within the department of laboratory medicine by using a genetic testing network. METHODS: An Inter-laboratory network has been organized between Soonchunhyang University Bucheon Hospital and Samsung Medical Center since January, 2005. As clinical laboratory physicians, we provide medical services ranging from genetic counseling to genetic testing. In this study we surveyed the need and demand for genetic consultation services using a questionnaire. RESULTS: Of the 30 cases that were requested to receive a genetic consultation, 24 were referred to the genetic clinic during the last 11 months. Of these, 18 underwent genetic tests. The request for genetic consultation came mainly from neurology, obstetrics, and pediatrics departments and the distribution of requested disease entities was very heterogeneous. Operating processes became more settled compared to the early period and specific work fields were secured in the genetic consultation services. Over 80% of the respondents replied that a medical genetic clinic was important and that public relations campaign should be continued. CONCLUSIONS: Establishment of a medical genetic clinic by using a genetic testing network has led to important changes that the department of laboratory medicine is most suitable for genetic testing and medical genetic consultations and laboratory physicians should be concerned in that field. A medical genetic consultation system based on extensive genetic information and knowledge could enhance opportunities for cooperation in genetic research.
Surveys and Questionnaires ; Genetic Counseling ; Genetic Research ; Genetic Testing* ; Gyeonggi-do ; Human Genome Project ; Neurology ; Obstetrics ; Pediatrics ; Public Relations ; Referral and Consultation

The human genomic project and the international HapMap project were designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association studies of common diseases, thus lead to molecular diagnosis and personnel therapy. The article briefly reviewed the creation, target and achievement of those two projects. Furthermore, the authors have given four suggestions in facing to the opportunities and challenges brought by the two projects, including cultivation improvement of elites, cross binding of multi-subjects, strengthening construction of research base and initiation of natural key scientific project.
Genome, Human ; Genomics ; HapMap Project ; Humans ; Oral Medicine

How personality forms and whether personality genes exist are long-studied questions. Various concepts and theories have been presented for centuries. Personality is a complex trait and is developed through the interaction of genes and the environment. Twin and family studies have found that there are critical genetic and environmental components in the inheritance of personality traits, and modern advances in genetics are making it possible to identify specific variants for personality traits. Although genes that were found in studies on personality have not provided replicable association between genetic and personality variability, more and more genetic variants associated with personality traits are being discovered. Here, we present the current state of the art on genetic research in the personality field and finally list several of the recently published research highlights. First, we briefly describe the commonly used self-reported measures that define personality traits. Then, we summarize the characteristics of the candidate genes for personality traits and investigate gene variants that have been suggested to be associated with personality traits.
Genetic Research ; Humans ; Wills

Many researchers have found that one of the most important characteristics of the structure of linkage disequilibrium is that the human genome can be divided into non-overlapping block partitions in which only a small number of haplotypes are observed. The location and distribution of haplotype blocks can be seen as a population property influenced by population genetic events such as selection, mutation, recombination and population structure. In this study, we investigate the effects of the density of markers relative to the full set of all polymorphisms in the region on the results of haplotype partitioning for five popular haplotype block partition methods: three methods in Haploview (confidence interval, four gamete test, and solid spine), MIG++ implemented in PLINK 1.9 and S-MIG++. We used several experimental datasets obtained by sampling subsets of single nucleotide polymorphism (SNP) markers of chromosome 22 region in the 1000 Genomes Project data and also the HapMap phase 3 data to compare the results of haplotype block partitions by five methods. With decreasing sampling ratio down to 20% of the original SNP markers, the total number of haplotype blocks decreases and the length of haplotype blocks increases for all algorithms. When we examined the marker-independence of the haplotype block locations constructed from the datasets of different density, the results using below 50% of the entire SNP markers were very different from the results using the entire SNP markers. We conclude that the haplotype block construction results should be used and interpreted carefully depending on the selection of markers and the purpose of the study.
Chromosomes, Human, Pair 22 ; Dataset ; Genome ; Genome, Human ; Haplotypes* ; HapMap Project ; Humans ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide* ; Recombination, Genetic

No abstract available.
Genetic Research* ; Thyroid Gland* ; Thyroid Neoplasms*

Cardiovascular Diseases ; genetics ; Genetic Research ; Humans

Complex kinship analysis refers to a kind of special kinship analysis taken for the purpose of personal identification or other issues in civil or criminal cases because the father or （and） mother is dead, or cannot participate in the analysis for other reasons. Due to the absence of significant appraised persons in this kind of kinship analysis, grandparents, siblings or collateral relatives are required to participate in the analysis. Complex kinship analysis is widely used and the demand is increasing year by year. This paper analyzes the main types of complex kinships, the genetic markers of complex kinship analysis and their advantages and disadvantages and the calculation methods for complex kinship analysis by referring to the relevant literatures at home and abroad in recent years. At the same time, the shortcomings of the present research on complex kinship and its future development are prospected.
Genetic Markers ; Humans ; Pedigree ; Research ; Siblings