Study on the data structure of the reference genome graph for handling all human genome variations

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K12531
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Life / Health / Medical informatics
• Research Institution: 大学共同利用機関法人情報・システム研究機構(機構本部施設等)
• Principal Investigator: Katayama Toshiaki 大学共同利用機関法人情報・システム研究機構(機構本部施設等), データサイエンス共同利用基盤施設, 特任助教 (60396869)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: ゲノムグラフ / セマンティックウェブ / データベース / アノテーション / ヒトゲノム

Outline of Final Research Achievements

The genome graph is expected to represent multiple genomes as a single graph for accelerating personal genome analysis by dealing with insertion sequences which doesn't exist in the current linear reference genome sequence and handling complex variations of the individual genome sequences. In this study, to integrate genome annotations in the knowledge base and the structure of genome graphs, it is tested to convert both of data into the Resource Description Framework (RDF) and applications such as annotation transfer are made.

Free Research Field

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