Development of multifactorial genome information processing technology for elucidating genetic the background of complex traits

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K06629
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 43060:System genome science-related
• Research Institution: The University of Tokyo (2020-2022); Osaka University (2019)
• Principal Investigator: Nakaya Akihiro 東京大学, 大学院新領域創成科学研究科, 特任教授 (60301149)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: ゲノム配列 / 配列変異 / 連鎖不平衡 / 解析パイプライン / ミトコンドリア / 電子顕微鏡

Outline of Final Research Achievements

We developed a method for extracting linkage disequilibrium blocks from mutation data for structuring genomic information. The method was implemented as software for extraction and visualization of intricate linkage disequilibrium blocks while scanning genomic DNA sequences of a sample set. We also developed a short-read whole genome sequencing (WGS) analysis pipeline. Software was developed to quantify traits related to spatial shape and distribution of tissues such as mitochondria and myofibrils from electron microscopy image data. We developed a pseudo-colorization method based on the classification information of tissues in images, and also developed a database of rectangular regions (ROIs) in images to which the classification information was added.

Free Research Field

ゲノム情報学

Academic Significance and Societal Importance of the Research Achievements

ゲノム配列データからの複雑な連鎖不平衡ブロックの抽出や電子顕微鏡画像データからの形質の定量を行うソフトウェアは十分には整備されていないため、独自に開発することによって解析対象の実データに合わせた開発や解析を手法自体の検討から行うことが可能となる。また、ソフトウェアとして実装することによってデータ解析に向けた手順や知見を汎用に共有することも可能となる。