• 한국균학회소식:학술대회논문집
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• 한국균학회 2018년도 춘계학술대회 및 임시총회
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• pp.22-22
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• 2018

Fungal genome sequencing and assembly have been trivial in these days. Genome analysis relies on high quality of gene prediction and annotation. Automatic fungal genome annotation pipeline is essential for handling genomic sequence data accumulated exponentially. However, building an automatic annotation procedure for fungal genomes is not an easy task. FunGAP (Fungal Genome Annotation Pipeline) is developed for precise and accurate prediction of gene models from any fungal genome assembly. To make high-quality gene models, this pipeline employs multiple gene prediction programs encompassing ab initio, evidence-, and homology-based evaluation. FunGAP aims to evaluate all predicted genes by filtering gene models. To make a successful filtering guide for removal of false-positive genes, we used a scoring function that seeks for a consensus by estimating each gene model based on homology to the known proteins or domains. FunGAP is freely available for non-commercial users at the GitHub site (https://github.com/CompSynBioLab-KoreaUniv/FunGAP).

• 한국유전체학회:학술대회논문집
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• 한국유전체학회 2003년도 The 12th Korea Genome Conference
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• pp.44.1-44.1
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• 2003

• Animal Systematics, Evolution and Diversity
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• 제36권4호
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• pp.336-346
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• 2020

Mitochondrial genome is an important molecule for systematic and evolutionary studies in metazoans. The development of next-generation sequencing (NGS) technique has rapidly increased the number of mitogenome sequences. The process of generating mitochondrial genome based on NGS includes different steps, from DNA preparation, sequencing, assembly, and annotation. Despite the effort to improve sequencing, assembly, and annotation methods of mitogenome, the low quality and/or quantity sequence in the final map can still be generated through the work. Therefore, it is necessary to check and curate mitochondrial genome sequence after annotation for proofreading and feedback. In this study, we introduce the pipeline for sequencing and curation for mitogenome based on NGS. For this purpose, two mitogenome sequences of Dermatobranchus otome were sequenced by Illumina Miseq system with different amount of raw read data. Generated reads were targeted for assembly and annotation with commonly used programs. As abnormal repeat regions present in the mitogenomes after annotation, primers covering these regions were designed and conventional PCR followed by Sanger sequencing were performed to curate the mitogenome sequences. The obtained sequences were used to replace the abnormal region. Following the replacement, each mitochondrial genome was compared with the other as well as the sequences of close species available on the Genbank for confirmation. After curation, two mitogenomes of D. otome showed a typically circular molecule with 14,559 bp in size and contained 13 protein-coding genes, 22 tRNA genes, two rRNA genes. The phylogenetic tree revealed a close relationship between D. otome and Tritonia diomea. The finding of this study indicated the importance of caution and curation for the generation of mitogenome from NGS.

• 미생물학회지
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• 제55권2호
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• pp.167-170
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• 2019

Pantoea intestinalis SRCM103226은 식용곤충 밀웜으로부터 분리하였으며, zeaxanthin을 메인으로 생산하였다. P. intestinalis SRCM103226의 유전체 분석을 실시하여 4,784,919 bp 크기의 염기서열, GC 비율은 53.41%로 나타났으며, 플라스미드는 존재하지 않는다. RAST server를 이용하여 annotation한 결과 4,332개의 코딩유전자, 22개의 rRNA, 85개의 tRNA 유전자가 확인되었다 지놈분석결과 zeaxanthin 생합성회로 5개 유전자를 가지고 있다. 이러한 유전체 정보는 zeaxanthin 생합성 경로의 분자 진화의 비교 유전체학 연구에 대한 기초 정보를 제공한다.

• Genomics & Informatics
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• 제9권4호
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• pp.194-196
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• 2011

Promoter prediction is a very important problem and is closely related to the main problems of bioinformatics such as the construction of gene regulatory networks and gene function annotation. In this context, we developed an integrated promoter prediction program using hybrid methods, PromoterWizard, which can be employed to detect the core promoter region and the transcription start site (TSS) in vertebrate genomic DNA sequences, an issue of obvious importance for genome annotation efforts. PromoterWizard consists of three main modules and two auxiliary modules. The three main modules include CDRM (Composite Dependency Reflecting Model) module, SVM (Support Vector Machine) module, and ICM (Interpolated Context Model) module. The two auxiliary modules are CpG Island Detector and GCPlot that may contribute to improving the predictive accuracy of the three main modules and facilitating human curator to decide on the final annotation.

• Genomics & Informatics
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• 제3권3호
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• pp.94-97
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• 2005

We have built a database server called Patome which contains the annotation information for patented bio-sequences from the Korean Intellectual Property Office (KIPO). The aims of the Patome are to annotate Korean patent bio-sequences and to provide information on patent relationship of public database entries. The patent sequences were annotated with Reference Sequence (RefSeq) or NCBI's nr database. The raw patent data and the annotated data were stored in the database. Annotation information can be used to determine whether a particular RefSeq ID or NCBI's nr ID is related to Korean patent. Patome infrastructure consists of three components­the database itself, a sequence data loader, and an online database query interface. The database can be queried using submission number, organism, title, applicant name, or accession number. Patome can be accessed at http://www.patome.net. The information will be updated every two months.

• Genomics & Informatics
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• 제4권4호
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• pp.182-187
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• 2006

6-Phosphogluconolactonase (6PGL) is one of the key enzymes in the ubiquitous pathways of central carbon metabolism, but bacterial 6PGL had been long known as a missing enzyme even after complete bacterial genome sequence information became available. Although recent experimental characterization suggests that there are two types of 6PGLs (DevB and YbhE), their phylogenetic distribution is severely biased. Here we present that proteins in COG group previously described as 3-oarboxymuconate cyclase (COG2706) are actually the YbhE-type 6PGLs, which are widely distributed in Proteobacteria and Fimicutes. This case exemplifies how erroneous functional description of a member in the reference database commonly used in transitive genome annotation cause systematic problem in the prediction of genes even with universal cellular functions.

• Genomics & Informatics
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• 제17권4호
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• pp.46.1-46.7
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• 2019

The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome scale, a large number of DNVs identified from the whole-genome sequencing of 1,902 healthy trios (i.e., parents and progeny) from the Simons Foundation for Autism Research Initiative study and 20 healthy Korean trios were analyzed. These apparently nonpathogenic DNVs were enriched in functional elements of the genome but relatively depleted in regions of common copy number variants, implying their potential function as triggers of evolution even in healthy groups. No strong mutational hotspots were identified. The pathogenicity of the DNVs was not strongly elevated, reflecting the health status of the cohort. The mutational signatures were consistent with previous studies. This study will serve as a reference for future DNV studies.

• Genomics & Informatics
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• 제17권2호
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• pp.19.1-19.10
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• 2019

In this paper, we investigate cross-platform interoperability for natural language processing (NLP) and, in particular, annotation of textual resources, with an eye toward identifying the design elements of annotation models and processes that are particularly problematic for, or amenable to, enabling seamless communication across different platforms. The study is conducted in the context of a specific annotation methodology, namely machine-assisted interactive annotation (also known as human-in-the-loop annotation). This methodology requires the ability to freely combine resources from different document repositories, access a wide array of NLP tools that automatically annotate corpora for various linguistic phenomena, and use a sophisticated annotation editor that enables interactive manual annotation coupled with on-the-fly machine learning. We consider three independently developed platforms, each of which utilizes a different model for representing annotations over text, and each of which performs a different role in the process.

• 생명과학회지
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• 제18권4호
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• pp.565-571
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• 2008

생물정보학의 발전으로 다양한 형태의 생물정보가 컴퓨터 프로그램에 의해 양산되고 있다. 단순한 서열간의 비교나 작은 규모의 자료를 처리하기 보다는 다각화된 정보와 대규모의 생물정보를 취급하고 있다. 그 중에서 시각화와 annotation를 위한 도구개발은 지난 10년간 많은 연구가 되고 있는 분야이다. 그럼에도 일반화된 도구 개발은 생물정보의 다양성과 사용자 요구의 다양화로 인해 매우 어렵다. 본 논문에서는 유전체간 알려진 정보와 다중 관계 그래프를 이용하여 이를 annotation하고 시각화하는 GenoVA 시스템을 제안한다. 다중 정렬을 위한 몇 개의 프로그램이 존재하지만 그 방법들이 서열내의 복잡성 때문에 많은 정보가 누락된다. 따라서 제안된 방법에서는 pairwise alignment를 확장하여 모든 유전체간 비교를 통해 연관성 도출한다. 유전체간 보존되는 영역의 빈도수와 BLAST 점수가 높은 것을 블록노드라 하고 이들 간의 연관관계를 다중 관계 그래프로 표현하였다. 또한 GenoVA는 알려진 정보, COG, 유전자를 시각화하고 다중 관계 그래프의 한 영역을 중심으로 클러스터링된 경로를 계층적으로 보여주었다. 이때 누락되거나 알려지지 않은 유전자나 다른 annotation정보 추출할 수 있다. 본 논문의 실험을 위해 열 개의 박테리아 유전체가 사용되었고 시각화와 annotation을 위한 자료로 활용하였다. GenoVA는 새로운 유전체에 대한 개략적이고 전산적 annotation을 직관적이고 편리하게 제공한다.