{"id":"hum0331","version":1,"url":"https://humandbs.dbcls.jp/research/hum0331/v1","datePublished":"2023-02-01","versions":[{"version":1,"datePublished":"2023-02-01"}],"title":{"ja":"がんや難病に関するゲノム医療の推進に必要な健常群 ・疾患コントロール群データの構築","en":"Construction of control data for the promotion of genomic medicine for cancers and rare diseases"},"summary":{"aims":{"ja":"難病やがんを対象としたゲノム医療の推進のため、全ゲノムシークエンス解析が進められている。疾患ゲノム解析の遂行には、疾患群の対照となる健常人コントロール群の全ゲノム解析データも必要である。国内の6つの国立高度専門医療研究センター（ナショナルセンター[National Centers: NC]）のバイオバンクにおいて収集し、地域性を考慮した検体から難病やがんに対するコントロール群を選定の上、全ゲノム解析を実施することで、コントロール群のゲノムデータベースを構築する。","en":"Whole genome sequencing is being promoted for better medical care of rare diseases and cancers. For these disease genome analyses, whole genome sequencing (WGS) analysis data of the healthy control group is necessary. We conducted WGS analysis of healthy individuals for cancers and rare diseases from biobank specimens held by six National Centers (NCs) Biobanks in Japan, taking regional variations into consideration, and construct a genome database of healthy individuals and disease control groups."},"methods":{"ja":"本研究の目的に適したDNAサンプルを各バイオバンクから選定し、受託解析機関で全ゲノムシークエンス（Whole genome sequencing：WGS）解析を実施する。WGS解析はPCRフリープロトコルによりライブラリを調整し、NovaSeq 6000シークエンサーにてリードを取得することで、最低90Gbの出力を得る。解析で得られたfastq形式のリードデータは研究代表機関（国立国際医療研究センター）において情報解析（マッピング・バリアントコール）を行い、バリアント情報を含むデータをデータベース化する。","en":"DNA samples that meet the criteria for the study will be shipped from the biobank and subjected to WGS analysis at a contract analysis laboratory. WGS analysis will be performed on a Novaseq6000 sequencer using a PCR-free protocol to obtain a minimum output of 90 Gb. The read data in fastq format obtained from the analysis will be subjected to data analysis (mapping and variant calling) at the principal institute (National Center for Global Health and Medicine), and the data including variant information will be made into a database."},"targets":{"ja":"難病やがん研究のコントロール群として利用可能な健常者（難病やがんを罹患していない生活習慣病を持つ人を含む） 9850名の内、QCにより除外された560名を除く9290名","en":"A total of 9850 DNA samples from healthy individuals (including people with common complex diseases who do not have rare diseases or cancers) that can be utilized as controls for cancers and rare diseases studies. 560 were excluded after QC."},"url":{"ja":[{"url":"https://ncbiobank.org/","text":"https://ncbiobank.org/"},{"url":"https://ncbiobank.org/cbs/","text":"https://ncbiobank.org/cbs/"}],"en":[{"url":"https://ncbiobank.org/en/","text":"https://ncbiobank.org/en/"},{"url":"https://ncbiobank.org/cbs/en/index.html","text":"https://ncbiobank.org/cbs/en/index.html"}]}},"listingSummary":{"methods":{"ja":"配列決定\n頻度情報","en":"Sequencing, Allele frequency"},"targets":{"ja":"健常者（難病や癌を罹患していない生活習慣病を持つ人を含む）：9290名\n（日本人）","en":"9290 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"がんや難病の研究のコントロールとして利用可能なNCBNのバイオバンクの登録者（難病やがんを罹患していない生活習慣病を持つ人を含む） 9850名のDNA検体をWGS解析した。国際1000人ゲノムプロジェクトが公開している高深度WGS解析の結果と合わせてJoint Callを行い、集団内頻度情報をvcfファイルにて提供する。","en":"WGS analysis of DNA samples from 9850 individuals registered in the NCBN biobank, which is available as a control for cancer and rare disease studies. Joint Call was performed together with the results of high coverage WGS analysis published by the International 1000 Genomes Project, and the allele frequency information for each population is provided in VCF."},"dataProviders":[{"name":{"ja":"徳永 勝士","en":"Katsushi Tokunaga"},"organization":{"name":{"ja":"国立国際医療研究センター ゲノム医科学プロジェクト","en":"National Center for Global Health and Medicine Genome Medical Science"}}}],"researchProjects":[{"name":{"ja":"ナショナルセンターバイオバンクネットワーク","en":"National Center Biobank Network"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"ゲノム医療の実装に資する臨床ゲノム情報統合データベースの整備と我が国の継続的なゲノム医療実施体制の構築","en":"Development of an integrated database of clinical genome information that contributes to the implementation of genomic medicine and the establishment of a continuous genomic medicine system in Japan"},"agency":{"ja":"日本医療研究開発機構（AMED） 臨床ゲノム情報統合データベース整備事業","en":"Program for an Integrated Database of Clinical and Genomic Information, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19kk0205012"]}],"relatedPublications":[{"title":"Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis","doi":"https://doi.org/10.1371/journal.pgen.1010625","datasets":["NHA000182"]}],"datasets":["NHA000182","NHA000181"],"controlledAccessUsers":[]}