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공공누리This item is licensed Korea Open Government License

웹 기반 개인유전체 통합분석 자동화 플랫폼 개발
Alternative Title
Development of an integrated system for automation of personal genome analysis pipelines
Alternative Author(s)
Han, Yeong-Man; Yu, Seok-Jong; An, In-Seong; Jo, Yong-Seong; Gang, Hyo-Jin; Lee, Jun-Hak; Tung; Kim, Hyeon-Sik
Korea Institute of Science and Technology Information
Publication Year
funder : 미래창조과학부
funder : KA
agency : 한국과학기술정보연구원
agency : Korea Institute of Science and Technology Information
□ 사업의 목표
- 맞춤의료 응용연구를 위한 웹 기반 개인유전체 통합분석 자동화 플랫폼 개발
□ 주요사업 내용
○ 대용량 개인유전체 통합분석 자동화 플랫폼 요소 기술 개발
- 대용량 오믹스 데이터 전송 및 전처리 기술 개발
- 이질적인 멀티오믹스 데이터 통합 기술 개발
- 개인유전체 통합 분석파이프라인 자동화 처리기술 개발
○ 개인유전체 통합분석 자동화 플랫폼 활용 기술 개발
- 사용자 친화적 웹기반 개인유전체 브라우저 개발
- 멀티오믹스 데이터 및 생체 네트워크와의 통합 연관 분석 인터페이스 개발

Ⅳ. Result of the study
□ Workflow-based automation of large-scale personal genome analysis.
- Build a web-based client-server architecture.
- Ontology-based extensible integration of heterogeneous I/O data types of NGS programs.
- Development of the workflow execution engine for large-scale personal genome data analysis pipelines.
- Support high-performance computing resources for large-scale NGS data analysis.
- Support user-defined tool scripts which can be used as a unit task of workflows, written in various programming languages, such as Java, Python, Ruby, especially R
- Development of optimization technologies for synchronization of workflow status between client application server side.
□ Development of useful workflows for personal medicine applications.
- Development of SNP, Indel variant detection workflow.
- Development of differentially Expressed Genes(DEGs) analysis workflow.
- Development of disease-causal gene prioritization workflow
□ Development of personal genome browser
- Development of genome-scale browser with user-friendly web interfaces.
- Development extensible track-based visualization technologies for results of NGS data analysis.
- Development of Track Overlapping capabilities for intuitive multi-track analysis.
- Development User-eXperience Navigator for management and reproduction of user navigation history for information of a particular gene of interest.
Next Generation Sequencing; Personal Genome; Personal Medicine; Workflow; Analysis Automation; Genome Browser
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7. KISTI 연구성과 > 연구보고서 > 2013
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