• Genomics & Informatics
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• v.7 no.3
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• pp.159-162
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• 2009

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2, a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.

• Molecules and Cells
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• v.43 no.1
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• pp.86-95
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• 2020

The red-crowned crane (Grus japonensis) is an endangered, large-bodied crane native to East Asia. It is a traditional symbol of longevity and its long lifespan has been confirmed both in captivity and in the wild. Lifespan in birds is known to be positively correlated with body size and negatively correlated with metabolic rate, though the genetic mechanisms for the red-crowned crane's long lifespan have not previously been investigated. Using whole genome sequencing and comparative evolutionary analyses against the grey-crowned crane and other avian genomes, including the long-lived common ostrich, we identified redcrowned crane candidate genes with known associations with longevity. Among these are positively selected genes in metabolism and immunity pathways (NDUFA5, NDUFA8, NUDT12, SOD3, CTH, RPA1, PHAX, HNMT, HS2ST1, PPCDC, PSTK CD8B, GP9, IL-9R, and PTPRC). Our analyses provide genetic evidence for low metabolic rate and longevity, accompanied by possible convergent adaptation signatures among distantly related large and long-lived birds. Finally, we identified low genetic diversity in the red-crowned crane, consistent with its listing as an endangered species, and this genome should provide a useful genetic resource for future conservation studies of this rare and iconic species.

• Genomics & Informatics
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• v.6 no.4
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• pp.161-165
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• 2008

In 2008 at least five complete genome sequences are available. It is known that there are over 15,000,000 genetic variants, called SNPs, in the dbSNP database. The cost of full genome sequencing in 2009 is claimed to be less than $5000 USD. The genomics era has arrived in 2008. This review introduces technologies, bioinformatics, genomics visions, and variomics projects. Variomics is the study of the total genetic variation in an individual and populations. Research on genetic variation is the most valuable among many genomics research branches. Genomics and variomics projects will change biology and the society so dramatically that biology will become an everyday technology like personal computers and the internet. 'BioRevolution' is the term that can adequately describe this change.

• Genomics & Informatics
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• v.9 no.1
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• pp.1-4
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• 2011

Genome-wide association (GWA) studies are the method of choice for discovering loci associated with common diseases. More than a thousand GWA studies have reported successful identification of statistically significant association signals in human genomes for a variety of complex diseases. In this review, I discuss some of the issues related to the future of GWA studies and their biomedical applications.

• Genomics & Informatics
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• v.20 no.1
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• pp.3.1-3.10
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• 2022

The recent development of whole-genome sequencing technologies paved the way for understanding the genomes of microorganisms. Every whole-genome sequencing (WGS) project requires a considerable cost and a massive effort to address the questions at hand. The final step of WGS is data analysis. The analysis of whole-genome sequence is dependent on highly sophisticated bioinformatics tools that the research personal have to buy. However, many laboratories and research institutions do not have the bioinformatics capabilities to analyze the genomic data and therefore, are unable to take maximum advantage of whole-genome sequencing. In this aspect, this study provides a guide for research personals on a set of bioinformatics tools available online that can be used to analyze whole-genome sequence data of bacterial genomes. The web interfaces described here have many advantages and, in most cases exempting the need for costly analysis tools and intensive computing resources.

• Journal of Microbiology and Biotechnology
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• v.14 no.5
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• pp.1081-1085
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• 2004

Genome research has become very popular in most nations. In order to enhance the efficiency of collaboration among genome research groups, ways to store and share data, communicate with each other, be guided through right research strategies, and to easily use well-established databases. In addition, since techniques and softwares for genome research groups are well established, a similar research road map could commonly be applied. In this study, we developed a web-based work place for effective genome research, named 'BioPlace.' From the beginning of writing a proposal, research members can work on the same environment with convenient aid to share files or data. BioPlace provides various ways of collaboration methods among genome researchers. The BioPlace system supports two types of workplaces, namely 'Personal Workspace' and 'Team Workspace.' For each BioPlace user, a Persona] Workspace is provided, while a Team Workspace is provided for each group with the same purpose. In addition, BioPlace provides a 'General Research Road Map' for genome research, and several Korean user interfaces for BLAST, PDB, and Primer3. We expect that BioPlace may facilitate collaboration of genome research among the experienced scientists and help beginners in many different ways as well.

• KOGO NEWS
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• v.8 no.2
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• pp.3-7
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• 2008

• The Korean Society of Law and Medicine
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• v.17 no.1
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• pp.45-105
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• 2016

The purposes of this study is to debate the duty to share and right to be forgotten of human materials and human genome information in modern personalized medicine. This study debates the use of human materials and human genome information in modern personalized medicine from the perspectives of the duty to share and right to be forgotten. The arguments are based on personal and community aspects. In general, human genome information is considered the personal property of an individual. Nevertheless, on thinking carefully, we can understand that human materials and human genome information have both personal and community aspects. In this study, cases are examined including a HeLa cell, Guaymi woman cell strain, and Hagahai man cell, to support various debates an genetic information for database construction in personalized medicine. Finally, using moral theories, this study attempts to synthesize the dialectics of the duty to share and right to forget regarding the use of human materials and human genome information in medicine.

• Genomics & Informatics
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• v.12 no.2
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• pp.50-57
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• 2014

We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma. The total length of the target regions is 107 kb, and a capture assay was designed to cover 99% of it. This method exhibited about 97% mean coverage at $30{\times}$ sequencing depth and 42% average specificity when sequencing of more than 3.25 Gb was carried out for the normal sample. We discovered 513 variations from targeted exome sequencing of lung cancer cells, which is 3.9-fold higher than in the normal sample. The variations in cancer cells included previously reported somatic mutations in the COSMIC database, such as variations in TP53, KRAS, and STK11 of sample H-23 and in EGFR of sample H-1650, especially with more than $1,000{\times}$ coverage. Among the somatic mutations, up to 91% of single nucleotide polymorphisms from the two cancer samples were validated by DNA microarray-based genotyping. Our results demonstrated the feasibility of high-throughput mutation profiling with lung adenocarcinoma samples, and the profiling method can be used as a robust and effective protocol for somatic variant screening.

• Genomics & Informatics
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• v.15 no.4
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• pp.178-182
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• 2017

Next-generation sequencing (NGS) technology has become a trend in the genomics research area. There are many software programs and automated pipelines to analyze NGS data, which can ease the pain for traditional scientists who are not familiar with computer programming. However, downstream analyses, such as finding differentially expressed genes or visualizing linkage disequilibrium maps and genome-wide association study (GWAS) data, still remain a challenge. Here, we introduce a dockerized web application written in R using the Shiny platform to visualize pre-analyzed RNA sequencing and GWAS data. In addition, we have integrated a genome browser based on the JBrowse platform and an automated intermediate parsing process required for custom track construction, so that users can easily build and navigate their personal genome tracks with in-house datasets. This application will help scientists perform series of downstream analyses and obtain a more integrative understanding about various types of genomic data by interactively visualizing them with customizable options.