Due to lack of appreciation of the complexities of the interactions between nature and nurture, claims for the rapid improvements in medical care following the human genome project have been exaggerated. Although some progress has been made in certain fields, the full scope of genomic medicine may not be realised for many years.
Genetics, Medical ; Genomics ; Global Health ; Human Genome Project ; Humans ; Metaphysics

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

This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields. De novo genome assembly and large scale DNA resequencing to understand genomic variations are popular genomic research tools for processing a tremendous amount of data at low cost. Studies on transcriptomes are now available, from previous-hybridization based microarray methods. Epigenetic studies are also available with NGS applications such as whole genome methylation sequencing and chromatin immunoprecipitation followed by sequencing. Human genetics has faced a new paradigm of research and medical genomics by sequencing technologies since the Human Genome Project. The trend of NGS technologies in human genomics has brought a new era of WGS by enabling the building of human genomes databases and providing appropriate human reference genomes, which is a necessary component of personalized medicine and precision medicine.
Chromatin Immunoprecipitation ; Computational Biology ; DNA ; Epigenomics ; Genetics, Medical ; Genome* ; Genome, Human ; Genomics ; High-Throughput Nucleotide Sequencing ; Human Genome Project ; Humans ; Methylation ; Precision Medicine ; Sequence Analysis, RNA ; Transcriptome

This paper presents a description of the rules of construction and function of genome as well as evolutional relationship between organisms, and opens out the essence of life through introducing the progress in genome of model organism. The other purpose of this review is to highlight the status and function of model organism in the research of comparing genomics so as to provide the model of cycle for researches into high creature life, especially human beings life.
Animals ; Chromosome Mapping ; Genes ; genetics ; Genome ; Genomics ; methods ; trends ; Human Genome Project ; Humans ; Models, Animal

After the initial enthusiasm of the human genome project, it became clear that without additional data pertaining to the epigenome, i.e., how the genome is marked at specific developmental periods, in different tissues, as well as across individuals and species-the promise of the genome sequencing project in understanding biology cannot be fulfilled. This realization prompted several large-scale efforts to map the epigenome, most notably the Encyclopedia of DNA Elements (ENCODE) project. While there is essentially a single genome in an individual, there are hundreds of epigenomes, corresponding to various types of epigenomic marks at different developmental times and in multiple tissue types. Unprecedented advances in next-generation sequencing (NGS) technologies, by virtue of low cost and high speeds that continue to improve at a rate beyond what is anticipated by Moore's law for computer hardware technologies, have revolutionized molecular biology and genetics research, and have in turn prompted innovative ways to reduce the problem of measuring cellular events involving DNA or RNA into a sequencing problem. In this article, we provide a brief overview of the epigenome, the various types of epigenomic data afforded by NGS, and some of the novel discoveries yielded by the epigenomics projects. We also provide ample references for the reader to get in-depth information on these topics.
Biology ; Computers ; DNA ; Epigenomics* ; Genetics ; Genome ; Human Genome Project ; Jurisprudence ; Methylation ; Molecular Biology ; RNA ; Virtues

Watson and Crick published a paper on the double helical structure of DNA in Nature in April 25, 1953. The human genome is contained in the 23 pairs of chromosomes and in the mitochondrial DNA of each cell. The Human Genome Project was launched in 1990 under the direction of Watson and concluded in 2003, on the 50th anniversary of Watson and Crick paper. Over 6 billion of nucleotides of genetic codes are in single cells. There are 23,000 protein coding genes and the remainder are non-coding DNA, regulatory DNA. Since the completion of Human Genome Project, these huge genomic information has been translated into clinically usable medical information. With the advent of massively parallel DNA sequencing, known as next generation DNA sequencing, the cost and turn-around time were significantly reduced so that the era of Whole Genome Sequencing entered into hospitals and medical clinics. On June 16, 2014 American Society of Human Genetics revised its mission statement as follows. "Our mission is to advance human genetics in science, health and society through research, education and advocacy". Finally medical genetics nestled its roots in the midst of genetics and genomics.
Anniversaries and Special Events ; Clinical Coding ; Clinical Medicine* ; DNA ; DNA, Mitochondrial ; Education ; Genetic Code ; Genetics ; Genetics, Medical ; Genome ; Genome, Human ; Genomics ; Human Genome Project ; Humans ; Missions and Missionaries ; Nucleotides ; Sequence Analysis, DNA*

DNA Methylation ; DNA, Neoplasm ; genetics ; Genomics ; trends ; Human Genome Project ; Humans ; Neoplasms ; genetics ; Research

he successful completion of Human Genome Project (HGP) and further advances in genomic research and technology ushered a new era of genetic medicine in the 21st century. The discovery of a gene-disease association lays the groundwork for the development of a genetic test. Clinical applications of genetic information and tools have provided us with the ability to perform a wide range of DNA testing for the diagnosis of various genetic diseases in patients as well as predicting the disease and disease susceptibility among presymptomatic family members at risk. Thus, the introduction of a new genetic testing may have complex implications for patients, family members, and the society. Guidelines for genetic testing have been developed not only to insure the accuracy of testing with the analytical validity, clinical validity, and clinical utility itself, but also to provide an implicit guide to ethical, legal and social issues (ELSI). Non-directive genetic counseling prior to genetic testing can provide patients with clinical implications of testing in terms of its benefits as well as risks, and help the patient to prepare informed consent, while efforts are made to insure privacy and confidentiality of individual genetic information. Ensuring the appropriate use of genetic testing in Korean health delivery system requires multidisciplinary efforts for the development of practice guidelines and educational programs for clinical genetics professionals including genetic counselors as well as governmental regulatory implementation for ELSI of genetic testing.
Confidentiality ; Counseling ; Diagnosis ; Disease Susceptibility ; DNA ; Genetic Counseling* ; Genetic Testing* ; Genetics ; Human Genome Project ; Humans ; Informed Consent ; Privacy

The completion of the human genome project enables us to understand the molecular pathophysiology of human genetic diseases more deeply. In addition, information from genomics has been utilized for the diagnosis of genetic disorders. The technological innovations have been explosive in the field of genetic testing. However, overwhelming genetic information often misleads physicians as well as patients to a wrong belief in the power of genetic testing. Genetic testing implicates many issues such as ethical, legal and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization (FISH) studies], biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the last decade and includes pre- and postnatal genetic testing for the diagnosis of Mendelian diseases in patients, carrier testing, the determination of individual susceptibility to common complex diseases, and population screening of common genetic diseases in a particular population. Theoretically, once the structure, function, and disease association of a gene are well clarified, the clinical application of the genetic testing seems to be feasible. However, the test has to satisfy certain criteria for clinical application at a routine clinical setting; a high sensitivity and positive predictive values, the availability of a controllable quality assurance program, the determination of whether the test is replacing or is complementary to the traditional test, a cost-benefit issue, the possibility of treatment or diseasecourse modification, possible pre-and postnatal genetic counseling, and so on. In the near future, the application of genetic testing will be further expanded to common diseases and the pharmacogenetic assessment of individuals.
Cytogenetics ; Diagnosis ; Diagnostic Tests, Routine ; Genes, vif ; Genetic Counseling ; Genetic Testing* ; Genomics ; Human Genome Project ; Humans ; In Situ Hybridization, Fluorescence ; Inventions ; Karyotyping ; Mass Screening