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Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data

Lee Y, Park K, Koh I

While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate....
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Genetic and epigenetic alterations of colorectal cancer

Hong SN

Colorectal cancer (CRC) arise from multi-step carcinogenesis due to genetic mutations and epigenetic modifications of human genome. Genetic mutations and epigenetic modifications were originally established as 2 independent mechanisms contributing...
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Molecular Signature for Lymphatic Invasion Associated with Survival of Epithelial Ovarian Cancer

Paik ES, Choi HJ, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH

PURPOSE: We aimed to develop molecular classifier that can predict lymphatic invasion and their clinical significance in epithelial ovarian cancer (EOC) patients. MATERIALS AND METHODS: We analyzed gene expression (mRNA, methylated...
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Gut Microbiota and Metabolic Disorders

Hur KY

The adult gut microbiota comprises 10~100 trillion microorganisms, which is equivalent to 10 times the number of total somatic and germ cells. Further, the collective genomes of gut microbiota (microbiome)...
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The Future Medical Science and Colorectal Surgeons

Kim YJ

Future medical technology breakthroughs will build from the incredible progress made in computers, biotechnology, and nanotechnology and from the information learned from the human genome. With such technology and information,...
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National human genome projects: an update and an agenda

An JY

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...
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Structural Variation of Alu Element and Human Disease

Kim S, Cho CS, Han K, Lee J

Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element...
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Aberrant Expression of Breast Development-Related MicroRNAs, miR-22, miR-132, and miR-212, in Breast Tumor Tissues

Damavandi , Torkashvand S, Vasei M, Soltani BM, Tavallaei , Mowla SJ

PURPOSE: MicroRNAs (miRNAs) are a major class of small endogenous RNA molecules that posttranscriptionally regulate the expression of most genes in the human genome. miRNAs are often located in chromosomal...
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Epigenetic modification of long interspersed elements-1 in cumulus cells of mature and immature oocytes from patients with polycystic ovary syndrome

Pruksananonda K, Wasinarom , Sereepapong W, Sirayapiwat P, Rattanatanyong P, Mutirangura A

OBJECTIVE: The long interspersed elements (LINE-1, L1s) are a group of genetic elements found in large numbers in the human genome that can translate into phenotype by controlling genes. Growing...
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Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology

Sener EF, Canatan H, Ozkul Y

Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence...
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Mining the Proteome of Fusobacterium nucleatum subsp. nucleatum ATCC 25586 for Potential Therapeutics Discovery: An In Silico Approach

Habib AM, Islam MS, Sohel M, Mazumder M, Sikder MO, Shahik SM

The plethora of genome sequence information of bacteria in recent times has ushered in many novel strategies for antibacterial drug discovery and facilitated medical science to take up the challenge...
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Effects of Single Nucleotide Polymorphism Marker Density on Haplotype Block Partition

Kim SA, Yoo YJ

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...
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Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing

Park ST, Kim J

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...
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Association of 5-HT3B Receptor Gene Polymorphisms with the Efficacy of Ondansetron for Postoperative Nausea and Vomiting

Kim MS, Lee JR, Choi EM, Kim EH, Choi SH

PURPOSE: Postoperative nausea and vomiting (PONV) is a common problem after general anesthesia. Although 5-hydroxytryptamine type 3 (5-HT3) receptor antagonists have significantly reduced PONV, over 35% of patients treated with...
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A Novel Case of Extreme Thrombocytosis in Acute Myeloid Leukemia Associated With Isochromosome 17q and Copy Neutral Loss of Heterozygosity

You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, Cho EH, Park TS

No abstract available.
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Thyroid Cancer: We Need a Carcinogen-specific Genome Study

Bae JM

No abstract available.
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Next Generation DNA Sequencing and Its Application in Clinical Medicine

Cho S

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...
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The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases

Ayarpadikannan S, Kim HS

Approximately 45% of the human genome is comprised of transposable elements (TEs). Results from the Human Genome Project have emphasized the biological importance of TEs. Many studies have revealed that...
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Understanding the Human Sensory Conduction of Smell

Park SW

The olfactory epithelium is the main end organ for the sense of smell in humans and vertebrates. Specially differenciated neuronal cells called olfactory receptor neurons (ORNs) play a key role...
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Genome Architecture and Its Roles in Human Copy Number Variation

Chen L, Zhou W, Zhang L, Zhang F

Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic...
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