웹 기반 개인유전체 통합분석 자동화 플랫폼 개발

Abstract

□ 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.