{"id":"hum0028","version":2,"url":"https://humandbs.dbcls.jp/research/hum0028/v2","datePublished":"2018-06-05","versions":[{"version":1,"datePublished":"2015-06-02"},{"version":2,"datePublished":"2018-06-05"}],"title":{"ja":"オーダーメイド医療の実現プログラム","en":"Biobank Japan Project"},"summary":{"aims":{"ja":"HLA遺伝子型推定に用いる日本人健常者参照データの作成","en":"Construction of the HLA imputation reference panel of the Japanese healthy controls"},"methods":{"ja":"6番染色体単腕上のmajor histocompatibility comples（MHC）領域内single nucleotide polymorphisms（SNP）の遺伝子型をIllumina（HumanOmniExpress BeadChip, HumanExome BeadChip, Immunochip, HumanHap550v3 Genotyping BeadChip）を用いて決定する。さらに、HLA 7座位（HLA-A/C/B/DRB1/DQB1/DPA1/DPB1）のアリルをWAKFlow HLA typing kitにて、また、1座位（HLA-DQA1）のアリルを塩基配列情報を元に決定した。","en":"SNPs in the HLA region were genotyped by Illumina BeadChips (HumanOmniExpress BeadChip, HumanExome BeadChip, Immunochip, HumanHap550v3 Genotyping BeadChip) and HLA alleles (HLA-A/C/B/DRB1/DQA1/DQB1/DPA1/DPB1) were determined by WAKFlow HLA typing kit or sequence based method."},"targets":{"ja":"日本人健常者908名","en":"908 Japanese healthy controls"},"url":{"ja":[{"url":"https://biobankjp.org/index.html","text":"https://biobankjp.org/index.html"}],"en":[{"url":"https://biobankjp.org/english/index.html","text":"https://biobankjp.org/english/index.html"}]}},"listingSummary":{"methods":{"ja":"HLA領域\nHLAアリルおよび\n領域内遺伝子型決定","en":"HLA allele and region genotyping"},"targets":{"ja":"健常者：908名\n（日本人）","en":"908 Participants\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"Illumina（HumanOmniExpress BeadChip, HumanExome BeadChip, Immunochip, HumanHap550v3 Genotyping BeadChip）を使用して決定した、日本人健常者908名のHLA領域の遺伝子型および、WAKFlow HLA typing kitを使用して決定したHLAアリル（7座位）情報に加えてシーケンス情報を基に決定したHLA-DQA1アリルの情報を、SNP2HLAソフトウェアの出力ファイル形式（.bed, .bgl.phased, .bim, .fam, .FRQ.frq, .markers）にて提供する。","en":"SNPs in the HLA region were genotyped by Illumina BeadChips (HumanOmniExpress BeadChip, HumanExome BeadChip, Immunochip, HumanHap550v3 Genotyping BeadChip) and HLA alleles (HLA-A/C/B/DRB1/DQA1/DQB1/DPA1/DPB1) were determined by WAKFlow HLA typing kit or sequence based method for 908 Japanese healthy controls. Data files are provided as SNP2HLA output files (.bed, .bgl.phased, .bim, .fam, .FRQ.frq, .markers)."},"dataProviders":[{"name":{"ja":"久保 充明","en":"Michiaki Kubo"},"organization":{"name":{"ja":"理化学研究所 統合生命医科学研究センター","en":"RIKEN Center for Integrative Medical Science"}}}],"researchProjects":[{"name":{"ja":"基盤技術開発研究チーム、統計解析研究チーム","en":"Laboratory for Genotyping Development and Laboratory for Statistical Analysis"},"url":{"ja":[{"url":"https://www.ims.riken.jp/","text":"https://www.ims.riken.jp/"}],"en":[{"url":"https://www.ims.riken.jp/english/","text":"https://www.ims.riken.jp/english/"}]}}],"grants":[{"title":{"ja":"オーダーメイド医療の実現プログラム（第3期）","en":"Tailor-made Medical Treatment Program (the 3rd phase)"},"agency":{"ja":"文部科学省 科学技術試験研究委託事業費","en":"Ministry of Education, Culture, Sports, Science and Technology in Japan"},"grantIds":null}],"relatedPublications":[{"title":"Construction of a population-specific HLA imputation reference panel and its application to Graves' disease risk in Japanese","doi":"https://doi.org/10.1038/ng.3310","datasets":["JGAD000018"]}],"datasets":["JGAD000018"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"河野 隆志","en":"Takashi Kohno"},"affiliation":{"ja":"国立がん研究センター研究所","en":"Division of Genome Biology, National Cancer Center"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肺がんの個別化予防に資する遺伝要因の同定を目指す研究","en":"Search for genes involved in susceptibility to lung cancer"},"periodStart":"2016-02-15","periodEnd":"2028-12-31","datasets":["JGAD000018"]},{"principalInvestigator":{"ja":"吉藤 元","en":"Hajime Yoshifuji"},"affiliation":{"ja":"臨床免疫学講座, 京都大学医学研究科","en":"Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"自己免疫疾患関連遺伝因子に関する研究","en":"To impute HLA alleles of patients with autoimmune diseases and helathy people to fine-map the HLA region to clarify the associations between the HLA locus and diseases susceptibility or 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