Výsledky vyhledávání - "Jaemoon Shin"

PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine

Autor: JaeMoon Shin, Junbeom Jeon, Dawoon Jung, Kiyong Kim, Yun Joong Kim, Dong-Hoon Jeong, JeeHee Yoon

Publikováno v: Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 959

Precision medicine has been revolutionized by the advent of high-throughput next-generation sequencing (NGS) technology and development of various bioinformatic analysis tools for large-scale NGS big data. At the population level, biomedical studies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce84870c9cd17b75170157e1e046e2ba

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Global Analysis of the Human RNA Degradome Reveals Widespread Decapped and Endonucleolytic Cleaved Transcripts

Autor: Jaemoon Shin, So Young Park, Jeehee Yoon, Jung-Im Won, Dong-Hoon Jeong

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 18
International Journal of Molecular Sciences, Vol 21, Iss 6452, p 6452 (2020)

RNA decay is an important regulatory mechanism for gene expression at the posttranscriptional level. Although the main pathways and major enzymes that facilitate this process are well defined, global analysis of RNA turnover remains under-investigate

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Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease

Autor: Yun Joong Kim, Jae-Min Oh, Young Eun Kim, Unjoo Lee, Jeehee Yoon, Sang-Kyoon Hong, Jeong Hoon Hong, Yeo Jin Kim, Junbeom Jeon, Hyeo-Il Ma, Jaemoon Shin, Nan Young Kim, Suk Yun Kang

Publikováno v: Movement Disorders. 32:1211-1220

Background and Objectives Many hereditary movement disorders with complex phenotypes without a locus symbol prefix for familial PD present as parkinsonism; however, the dysregulation of genes associated with these phenotypes in the SNpc of PD patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::49feaefd46a569a45d52f4fc57225281
https://doi.org/10.1002/mds.27019

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ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data

Autor: Jinhwa Kong, Keonbae Lee, Jung-Im Won, Unjoo Lee, Jeehee Yoon, Jaemoon Shin

Publikováno v: BioMed Research International
BIOMED RESEARCH INTERNATIONAL
BioMed Research International, Vol 2017 (2017)

Copy number variations (CNVs) are structural variants associated with human diseases. Recent studies verified that disease-related genes are based on the extraction of rare de novo and transmitted CNVs from exome sequencing data. The need for more ef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56190cefe34f0bab0229ff7eeab80a26
https://doi.org/10.1155/2017/9631282

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WebPORD: a web-based pipeline of RNA degradome

Autor: Jeehee Yoon, Jung-Im Won, Dong Hoon Jeong, HeonWoo Lee, JunBeom Lee, JaeMoon Shin

Publikováno v: International Journal of Data Mining and Bioinformatics. 22:216

The advent of high-throughput Next-Generation Sequencing (NGS) technology has brought in a new genomics era. It is widely utilised not only for genomic but also for transcriptome sequencing. NGS-based transcriptomic methods, including RNA-seq, are wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d53cdbb5b2ab6a8be0f400bfec589d5
https://doi.org/10.1504/ijdmb.2019.100623

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Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease

Autor: Yun Joong, Kim, Junbeom, Jeon, Jaemoon, Shin, Nan Young, Kim, Jeong Hoon, Hong, Jae-Min, Oh, SangKyoon, Hong, Yeo Jin, Kim, Young-Eun, Kim, Suk Yun, Kang, Hyeo-Il, Ma, Unjoo, Lee, Jeehee, Yoon

Publikováno v: Movement disorders : official journal of the Movement Disorder Society. 32(8)

Many hereditary movement disorders with complex phenotypes without a locus symbol prefix for familial PD present as parkinsonism; however, the dysregulation of genes associated with these phenotypes in the SNpc of PD patients has not been systematica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::882997522d2fa6b716cfd14f08868893
https://pubmed.ncbi.nlm.nih.gov/28548297

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An efficient noise reduction method for copy number variations detection from whole exome sequencing data

Autor: Unjoo Lee, Jeehee Yoon, Jinhwa Kong, Jung-Im Won, Jaemoon Shin

Publikováno v: HPCS

We present a new normalization protocol of raw WES coverage data to reduce the noise problems from variable specificities and efficiencies of the probes, which is combined with the previously developed CNV detection method based on scale-space filter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fc73e6e85c75ff5dccd55667fc33908
https://doi.org/10.1109/hpcsim.2016.7568451

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Exome_pipe: An automatic exome data analysis pipeline

Autor: Yunyoung Choi, Jeehee Yoon, Keonbae Lee, Jinhwa Kong, Jaemoon Shin

Publikováno v: HPCS

In this research, we propose a pipeline system to identify disease-causal genes in whole exome sequencing data. The pipeline automates the execution of the following steps: 1) initial read data control and cleaning; 2) alignment to a reference genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a20ee625c752d440b56babcc86d4759a
https://doi.org/10.1109/hpcsim.2016.7568452

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