Development of an integrated data-processing environment for disease-related genome analysis

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K07222
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: System genome science
• Research Institution: Osaka University
• Principal Investigator: NAKAYA Akihiro 大阪大学, 医学系研究科, 特任教授(常勤) (60301149)
• Co-Investigator(Kenkyū-buntansha): 岡崎 敦子 (今井敦子) 大阪大学, 医学系研究科, 特任助教 (70761691) ; 菊地 正隆 大阪大学, 医学系研究科, 特任講師(常勤) (90722538)
• Research Collaborator: KOBAYASHI kaori
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: ゲノム解析 / 次世代シーケンサ / マイクロアレイ / ヒト疾患関連変異 / 解析ソフトウェア / データベース

Outline of Final Research Achievements

We developed a data processing system for disease-related genome analysis. We carried out whole-exome sequencing (WES) of ten Japanese individuals using the DNA samples provided by the 1000 Genomes Project. We processed the sequencing results using the analysis pipeline and stored the obtained variants in a database developed for this study. The database also includes the variants in the approximately one hundred Japanese individuals obtained by processing the results of WES provided by the 1000 Genomes Project. We developed an application program that evaluates how the chromosomal regions with variants distribute in a population. We also developed a genome scanning method that extracts the regions where variants satisfying a given condition are found with high frequency and then generates block diagrams representing the regions and their mutual relationships. Using the database and programs developed, we carried out analysis of clinical data in collaboration with clinical researchers.

Free Research Field

ゲノム情報学

Academic Significance and Societal Importance of the Research Achievements

独自に開発したソフトウェアとデータベースを用いて解析を行うことができる環境を整備した。コントロール検体群のゲノム情報の整備を行った。ヒト疾患に関する実データの解析を行った。