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2015 Fiscal Year Final Research Report

Development of Integrated Annotation Workflows for Human Whole Genome Sequencing

Research Project

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Project/Area Number 25430183
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field System genome science
Research InstitutionNagasaki University

Principal Investigator

MISHIMA Hiroyuki  長崎大学, 原爆後障害医療研究所, 助教 (10513319)

Co-Investigator(Renkei-kenkyūsha) YOSHIURA Koh-ihiro  長崎大学, 原爆後障害医療研究所, 教授 (00304931)
KATAYAMA Toshiaki  情報, システム研究機構DBCLS, 助教 (60396869)
Project Period (FY) 2013-04-01 – 2016-03-31
Keywordsヒトゲノム / バイオインフォマティクス / 次世代シークエンサー / ワークフロー
Outline of Final Research Achievements

This study aims to build workflows for finding disease causing mutations using whole genome sequencing data. For the goal, the primary researcher extended TogoWS to support the UCSC genome database, several open-source tools, the Bio-Virtuoso Docker containers. Built workflows were applied for whole genome dataset of 12 individuals.

Free Research Field

人類遺伝学

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Published: 2017-05-10  

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