{"id":"JGAD000864","research":"hum0474","url":"https://humandbs.dbcls.jp/dataset/JGAD000864","datePublished":"2024-08-23","dateModified":"2024-08-23","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"controlled-access-type-1","label":{"ja":"制限公開（Type I）","en":"Controlled-access (Type I)"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"NGS（Target Capture）","en":"NGS (Target Capture)"}}],"experiments":[{"label":"Targeted DNA sequencing","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"ASD児（ICD10：F849）：32名\n低出生体重児：8名\n閾値下ASD児：3名\n定型発達児：36名\n頬粘膜：1検体ずつ （合計：79検体）","en":"32 children with ASD (ICD10: F849)\n8 children with low birth weight\n3 children with sub-threshold ASD\n36 typically developing children\nbuccal mucosa: each 1 sample (total 79 samples)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"F849","label":{"ja":"広汎性発達障害，詳細不明","en":"Pervasive developmental disorder, unspecified"}}],"name":{"ja":"ASD児","en":"children with ASD"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":79,"unit":null,"high":null}]},{"key":"subject-count-type","label":{"ja":"対象者数の数え方","en":"Counted as"},"type":"vocabulary","terms":[{"code":"individual","label":{"ja":"人数","en":"Individual"}}]},{"key":"age-group","label":{"ja":"年齢層","en":"Age group"},"type":"vocabulary","terms":[{"code":"child","label":{"ja":"小児","en":"Child"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"頬粘膜検体から抽出したDNA","en":"DNAs extracted from buccal mucosa samples"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"buccal-mucosa","label":{"ja":"頬粘膜","en":"Buccal mucosa"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":"ASD関連遺伝子：POGZ、SCN1A、SCN2A、FOXP1、SLC6A1、ARID1B、SYNGAP1、CNTNAP2、KCNQ3、PTEN、SUV420H1、GRIN2B、CHD8、ADNP、DYRK1A、SHANK3\nプロモーター領域：HTTLPR\n遺伝子間領域：rs1620977、rs34213746、rs1452075、rs16854048、rs325506、rs2388334、rs111931861、rs7794745、rs10099100、rs11787216、rs2094530、rs10149470、rs113877277、rs6035856、rs6035857、rs6047381、rs6137325、rs6137326、rs71190156、rs910805","en":"ASD-associated genes: POGZ, SCN1A, SCN2A, FOXP1, SLC6A1, ARID1B, SYNGAP1, CNTNAP2, KCNQ3, PTEN, SUV420H1, GRIN2B, CHD8, ADNP, DYRK1A, SHANK3\nPromoter region: HTTLPR\nSNPs in intergenic regions: rs1620977, rs34213746, rs1452075, rs16854048 , rs325506, rs2388334, rs111931861, rs7794745, rs10099100, rs11787216, rs2094530, rs10149470, rs113877277, rs6035856, rs6035857, rs6047381, rs6137325, rs6137326, rs71190156, rs910805"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"kapa-hyperplus-kit","label":{"en":"KAPA HyperPlus Kit"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"酵素反応","en":"Enzymatic fragmentation"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-iseq-100","label":{"en":"Illumina iSeq 100"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"paired-end","label":{"ja":"ペアエンド","en":"Paired-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":150,"unit":"bp","high":null}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch38","label":{"en":"GRCh38"}}]},{"key":"mapping","label":{"ja":"マッピング","en":"Mapping"},"type":"text","text":{"ja":"Burrows-Wheeler Aligner v0.7.17","en":"Burrows-Wheeler Aligner v0.7.17"}},{"key":"mapping-quality","label":{"ja":"マッピング品質","en":"Mapping quality"},"type":"text","text":{"ja":null,"en":null}},{"key":"coverage-depth","label":{"ja":"カバレッジ (深度)","en":"Coverage (depth)"},"type":"number","numbers":null},{"key":"coverage-breadth","label":{"ja":"カバレッジ (割合)","en":"Coverage (breadth)"},"type":"number","numbers":null},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]}],"dataVolume":4538450741,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}},{"code":"vcf","label":{"en":"VCF"}}]}