• Journal of Genetic Medicine
• /
• v.12 no.2
• /
• pp.61-65
• /
• 2015

Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the first method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina offer WGS-based NIPT, each with different technical and bioinformatic approaches. Sequenom, BGI, and Illumina utilize z-, t-, and L-scores, as well as normalized chromosome values, respectively, for trisomy detection. Their outstanding performance has been demonstrated in clinical studies of more than 100,000 pregnancies. The sensitivity and specificity for detection of trisomies 13, 18, and 21 were above 98%, as reported by all three companies. Unlike other techniques, WGS-based NIPT can detect other trisomies as well as clinically significant segmental duplications/deletions within a chromosome, which could expand the scope of NIPT. Incorrect results could be due to low fetal fraction, fetoplacental mosaicism, confined placental mosaicism or maternal copy number variation (CNV). Among those, maternal CNV is a significant contributor of false positive results and therefore genome wide scanning plays an important role in preventing the occurrence of false positives. In this article, the bioinformatic techniques and clinical performance of three major companies are comprehensively reviewed.

• ALGAE
• /
• v.31 no.2
• /
• pp.137-154
• /
• 2016

Next generation sequencing (NGS) technologies have revolutionized many areas of biological research due to the sharp reduction in costs that has led to the generation of massive amounts of sequence information. Analysis of large genome data sets is however still a challenging task because it often requires significant computer resources and knowledge of bioinformatics. Here, we provide a guide for an uninitiated who wish to analyze high-throughput NGS data. We focus specifically on the analysis of organelle genome and metagenome data and describe the current bioinformatic pipelines suited for this purpose.

• Proceedings of the Korean Information Science Society Conference
• /
• 2003.04a
• /
• pp.638-640
• /
• 2003

최근 바이오인포매틱스 분야의 발전에 따라 방대한 양의 유전체 데이터에 대한 연구가 진행되고 있으며, 이러한 데이터를 효율적으로 다루기 위해 다양한 형태의 파일과 데이터베이스들이 사용되고 있다. 하지만 표준화의 미비로 인하여 데이터의 관리와 변환에 어려움이 많다. 본 논문에서는 이러한 문제점을 해결하기 위하여 바이오인포매틱스 데이터를 다루기 위한 표준으로 다양한 XML 포맷들 중에서 BSML(Bioinformatic Sequence Markup Language)을 채택하고, Genbank 파일을 변환하여 관계형 데이터베이스에 저장하는 모듈을 개발한다. 또한 관계형 데이터베이스 형태의 유전체 데이터를 BSML 형태로, Genbank 파일 형태를 BSML 형태로 그리고 AGAVE(Architecture for Genomic Annotation)파일 형태를 BSML 형태로 변환하는 변환기롤 개발하고자 한다.

• Proceedings of the Korean Information Science Society Conference
• /
• 2005.07b
• /
• pp.262-264
• /
• 2005

MicroRNA는 약 22 nucleotide 길이로, 세포질에서 유전자의 전사 후 조절 기능을 맡는 small RNA의 한 종류이다. MiRNA는 긴 전사체인 pri-miRNA에서 Drosha에 의해 절단 되어 핵 밖으로 나가 최종 Dicer에 의해 성숙된다. 하지만, 아직까지 이 효소들이 pri-miRNA를 잘라내는 3차 구조상의 메커니즘을 이해하지 못하고 있다. 본 연구에서는 완숙한 miRNA 이중나선이 약 2 회전을 이루게 된다는 정보를 바탕으로, Drosha가 붙는 miRNA stem구조의 dinucleotide step 파라미터를 유전 알고리즘을 이용하여 추정한다. 추정된 파라미터로부터 실제 miRNA들의 3차구조를 예측할 수 있으며, 3차 구조상의 Drosha의 절단 메커니즘을 이해하는데 도움을 줄 것이다.

• Proceedings of the Korean Society for Bioinformatics Conference
• /
• 2000.11a
• /
• pp.53-55
• /
• 2000

Xenie is the JAVA application software that integrates and represents 'gene to function'information of human gene. Xenie extracts data from several heterogeneous molecular biology databases and provides integrated information in human readable and machine usable way. We defined 7 semantic frame classes (Gene, Transcript, Polypeptide, Protein_complex, Isotype, Functional_object, and Cell) as a common schema for storing and integrating gene to function information and relationship. Each of 7 semantic frame classes has data fields that are supposed to store biological data like gene symbol, disease information, cofactors, and inhibitors, etc. By using these semantic classes, Xenie can show how many transcripts and polypeptide has been known and what the function of gene products is in General. In detail, Xenie provides functional information of given human gene in the fields of semantic objects that are storing integrated data from several databases (Brenda, GDB, Genecards, HGMD, HUGO, LocusLink, OMIM, PIR, and SWISS-PROT). Although Xenie provide fully readable form of XML document for human researchers, the main goal of Xenie system is providing integrated data for other bioinformatic application softwares. Technically, Xenie provides two kinds of output format. One is JAVA persistent object, the other is XML document, both of them have been known as the most favorite solution for data exchange. Additionally, UML designs of Xenie and DTD for 7 semantic frame classes are available for easy data binding to other bioinformatic application systems. Hopefully, Xenie's output can provide more detailed and integrated information in several bioinformatic systems like Gene chip, 2D gel, biopathway related systems. Furthermore, through data integration, Xenie can also make a way for other bioiformatic systems to ask 'function based query'that was originally impossible to be answered because of separatly stored data in heterogeneous databases.

• Journal of Scientific & Technological Knowledge Infrastructure
• /
• s.3
• /
• pp.20-25
• /
• 2000

생물정보학은 넓은 의미로 컴퓨터를 이용하여 모든 생화학정보를 광범위하게 연구.활용하는 학문이라고 할 수 있다. 하지만 최근의 인간유전체사업(Human Genome Project)의 인기에 의해 생물정보학이 DNA나 단백질의 서열 정보 분석의 분야로만 편중되어 의미되는 경향이 많은 것이 사실이다.

• Genomics & Informatics
• /
• v.3 no.1
• /
• pp.24-29
• /
• 2005

TRPV2 is a non-specific cation channel expressed in sensory neurons, and activated by noxious heat. Particularly, TRPV2 has six transmembrane domains and three ankyrin repeats. TRPV2 has been cloned from various species such as human, rat, and mouse. Oocytes of Xenopus laevis - an African clawed frog ­have been widely used for decades in characterization of various receptors and ion channels. The functional property of rat TRPV2 was also identified by this oocyte expression system. However, no TRPV2 orthologue of Xenopus laevis has been reported so far. Hence, we have focused to clone a TRPV2 orthologue of Xenopus laevis with the aid of bioinformatic tools. Because the genome sequence of Xenopus laevis is not available until now, a genome sequence of Xenopus tropicalis - a close relative species of Xenopus laevis - was used. After a number of bioinformatic searches in silico, a predicted full-length sequence of TRPV2 orthologue of Xenopus tropicalis was found. Based on this predicted sequence, various approaches such as RT-PCR and 5' -RACE technique were applied to clone a full length of Xenopus laevis TRV2. Consequently, a full-length Xenopus laevis TRPV2 was cloned from heart cDNA.

• Genomics & Informatics
• /
• v.21 no.2
• /
• pp.26.1-26.9
• /
• 2023

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

• BMB Reports
• /
• v.38 no.6
• /
• pp.739-747
• /
• 2005

Full-length cDNA sequences of four novel SPATA4 genes in chimpanzee, cow, chicken and ascidian were identified by bioinformatic analysis using mouse or human SPATA4 cDNA fragment as electronic probe. All these genes have 6 exons and have similar protein molecular weight and do not localize in sex chromosome. The mouse SPATA4 sequence is identified as significantly changed in cryptorchidism, which shares no significant homology with any known protein in swissprot databases except for the homologous genes in various vertebrates. Our searching results showed that all SPATA4 proteins have a putative conserved domain DUF1042. The percentages of putative SPATA4 protein sequence identity ranging from 30% to 99%. The high similarity was also found in 1 kb promoter regions of human, mouse and rat SPATA4 gene. The similarities of the sequences upstream of SPATA4 promoter also have a high proportion. The results of searching SymAtlas (http://symatlas.gnf.org/SymAtlas/) showed that human SPATA4 has a high expression in testis, especially in testis interstitial, leydig cell, seminiferous tubule and germ cell. Mouse SPATA4 was observed exclusively in adult mouse testis and almost no signal was detected in other tissues. The pI values of the protein are negative, ranging from 9.44 to 10.15. The subcellular location of the protein is usually in the nucleus. And the signal peptide possibilities for SPATA4 are always zero. Using the SNPs data in NCBI, we found 33 SNPs in human SPATA4 gene genomic DNA region, with the distribution of 29 SNPs in the introns. CpG island searching gives the data about CpG island, which shows that the regions of the CpG island have a high similarity with each other, though the length of the CpG island is different from each other.This research is a fundamental work in the fields of the bioinformational analysis, and also put forward a new way for the bioinformatic analysis of other genes.

• Journal of Scientific & Technological Knowledge Infrastructure
• /
• s.10
• /
• pp.60-63
• /
• 2002

20세기초 시작된 실험동물분야는 다른 분야에 비해 뒤늦게 시작된 분야임에도 불구하고 생명해석과 의학의 발전과 더불어 급격히 발전한 분야라 할 수 있다. 특히, 1950년대 오염되지 않은 다양한 청정동물의 개발, 1970-80년대의 다양한 질환모델동물의 개발에 이어, 분자생물학의 발전과 더불어 1990년대를 거쳐 21세기의 다양한 유전자도입동물가 개발되고 있다. 이는 자연계에 존재하는 생물자원만이 아닌, 유전자조작으로 다양하게 개발되는 새로운 생물자원을 포함하므로, 그 다양성의 가치와 정보의 집대성은 대단히 중요한 일이며, 유전자연구의 한축이 되고있는 bioinformatic 분야에서도 많은 부분 할애되고 있다고 해도 과언이 아닐 것이다.