資料釋出連結
本資料庫設置Taiwan View網頁(https://taiwanview.twbiobank.org.tw)呈現全基因體定序與基因型鑑定資料的結果, 包含兩種定序平台資料及65.3萬點定型資料的序列變異頻率及位點資訊,提供給研究學者使用網頁瀏覽和查詢,並且經由免費註冊後,可下載序列頻率。
另外設置「檢體與數位資料釋出管理系統」(https://www.biobank.org.tw/index.php)提供使用者查詢及申請服務。使用者登入後,可選擇與填入相關篩選條件和欲申請項目,查詢目前資料庫可供申請個案數,並利用儲存與管理查詢記錄進行線上申請,以及使用所申請之資料。
檢體加值
臺灣人體生物資料庫成立目的是希望建立生物醫學的基礎建設, 透過大規模的個案邀請和長期追蹤,協助收集大量的生物檢體、 環境暴露與健康資訊等相關資訊, 提供國內生物醫學相關領域的研究學者申請使用。
其中,為了減少檢體的消耗及建立臺灣地區民眾的基本參考資訊, 臺灣人體生物資料庫將檢體進一步進行實驗, 提供全方面的實驗資訊給大家進行分析研究, 幫助研究學者節省人力物力並縮短實驗時間, 希望透過這些實驗相關資訊, 作為醫學研究的基礎, 協助生物醫學研究學者找出對抗疾病的發生、 進展和治療上的線索,全面地找出對疾病的影響成因,促進國人未來的健康。
基因體學(Genomics)
在基因體學方面,本資料庫採用全基因體定序(Whole Genome Sequencing)與全基因型鑑定(Whole Genome Genotyping)兩個策略建立臺灣民眾基因體資料。
全基因體定型資料(Whole-genome genotyping)
TWBv1.0
基因型鑑定系統採用Affymetrix公司所研發之技術平台, 委託國家基因體醫學研究中心進行實驗與分析。 TWB chip為客製化Axiom Genome-Wide Array Plate晶片系統, 挑選共 65.3萬單一核苷酸多型性位點(SNPs)。(下載TWBv1.0 SNPs位點相關資訊)
TWBv2.0
透過資料庫TWBv1.0和全基因體定序的資訊和執行經驗,進一步針對臺灣族群客製化開發TWBv2.0基因型鑑定晶片(Axiom Genome-Wide Array Plate晶片系統),挑選共約 75萬單一核苷酸多型性位點(SNPs),提供更適切臺灣族群及臨床使用的基因型鑑定位點。(下載TWBv2.0 SNPs位點相關資訊)
全基因體定序資料(Whole-genome sequencing)
本資料庫同時選用Thermo Fisher Ion Proton與Illumina平台,Thermo Fisher Ion Proton委託有勁生物科技科技公司進行實驗與分析,Illumina委託基龍米克斯生物科技科限公司進行實驗與分析,包含使用機型HiSeq 2500、HiSeq 4000、NovaSeq 6000。透過血液中萃取的DNA檢體進行次世代全基因體的定序,定序產量為90G,平均30倍的覆蓋深度。
人類白血球組織抗原分型資料(HLA typing)
人類白血球組織抗原位於染色體6p, 與個案的免疫系統相關。 此實驗委託有勁生物科技科技公司採用NXType試劑進行實驗, 利用次世代定序的方式定型class I︰HLA-A、HLA-B、HLA-C,及class II︰HLA-DPA1、HLA-DPB1、HLA-DQA1、HLA-DQB1、HLA-DRB1、HLA-DRB345。 使用此實驗技術最深可得到4 field的人類白血球組織抗原分型資料。
Taiwan View
本資料庫設置Taiwan View網頁(https://taiwanview.twbiobank.org.tw)將全基因體定序與基因型鑑定資料的結果在網頁上呈現, 包含兩種定序平台資料及65.3萬點定型資料的序列變異頻率, 公開地提供給研究學者查詢使用,透過使用網頁上瀏覽和查詢的功能, 即可得知臺灣民眾基因體上的背景資訊,並且經由免費註冊後,可下載序列頻率。

表觀基因體學(Epigenomic)
甲基化晶片
使用Illumina Infinium MethylationEPIC BeadChip人類全基因甲基化分析晶片, 委託康健基因科技進行實驗和分析。 此晶片可直接偵測單點的甲基化比例並提供超過85萬的CpG位點偵測, 透過血液中血球萃取的DNA來偵測甲基化的程度。(下載甲基化晶片位點相關資訊)

代謝體學 (Metabolomics)
血液代謝體資料
利用位於中央研究院高磁場核磁共振中心, 以裝備低溫探頭的 Bruker Avance 800 兆赫核磁共振光譜儀收集全血漿與過濾血漿的一維與二維光譜, 可供進行代謝體學的定性與定量解析。

尿液塑化劑與三聚氰胺含量資料
本資料庫委託高雄醫學大學 環境醫學研究中心與國家衛生研究院 國家環境醫學研究所 微量分析實驗室, 以儀器LC/MS-MS進行個案尿液中,11種塑化劑(MEHP、MEOHP、MEHHP、MECPP、MCMHP、MBzP、MnBP、MiBP、MEP、MMP、MiNP)與三聚氰胺含量測定, 並提供整理後的原始數據與Creatinine校正後的數值,供申請人進行後續分析。

進階追蹤醫學影像資料
臺灣人體生物資料庫2016年正式開始「進階追蹤」收案,即除了一般追蹤的收案項目(問卷、身體檢測、血液尿液檢驗,以及抽血留尿等)以外,外加委託淡水馬偕醫院影像車至收案駐站進行腹部超音波、全身骨密度、心電圖、頸動脈超音波等醫學影像檢查。除了釋出DICOM原檔之外,亦附上無需安裝之簡易閱讀軟體CDView與使用說明(下載CDView與使用說明),以及儀器紀錄之數值或判讀結果表格,提供給申請人使用。

申請流程和所需文件
機構正式行文申請函 | (下載範例PDF檔) |
申請機構之證明文件 | (下載範例PDF檔) |
(下載WORD檔) | |
研究資料使用申請書 | (下載WORD檔) |
研究計畫書 | (下載WORD檔) |
送審倫理審查證明文件或通過倫理審查證明文件 | |
送審文件確認表 | (下載WORD檔) |
資料使用契約 | (下載PDF檔) |
收費標準
依據規費法第十條規定,訂定中央研究院臺灣人體生物資料庫資料及檢體使用收費標準 。
中央研究院臺灣人體生物資料庫資料及檢體使用收費如下表:
一、以個案申請者:
資料 | 費用 |
---|---|
一般參與者問卷資料 | 5元/每單元每個案 |
一般參與者身體檢測資料 | 5元/每個案 |
一般參與者血液與尿液檢驗資料 | 5元/每類別每個案 |
DNA | 10元/每微克(μg) |
血漿 | 200元/每管(0.4ml) |
尿液 | 50元/每管(1ml) |
全基因體定型資料 | 3元/每個案 |
全基因體定序資料 | 3元/每個案 |
全基因體甲基化晶片資料 | 3元/每個案 |
人類白血球組織抗原分型資料 | 3元/每個案 |
血液代謝體資料 | 3元/每個案 |
尿液塑化劑含量資料 | 3元/每個案 |
尿液三聚氰胺含量資料 | 3元/每個案 |
二、以整批數位資料集申請者:
數位資料項目費用 | 數位資料集釋出筆數 | 費用 (單位:新臺幣/元) |
---|---|---|
一般參與者問卷、身體檢測及血液尿液檢驗數位資料集 | 105,390筆 | 每數位資料集50,000元 |
一般參與者全基因體定型數位資料集 | 96,728筆 | 每數位資料集20,000元 |
一般參與者全基因體定序數位資料集 | 2,011筆 | 每數位資料集5,000元 |
一般參與者全基因體甲基化晶片數位資料集 | 2,091筆 | 每數位資料集3,000元 |
一般參與者人類白血球組織抗原分型數位資料集 | 1,103筆 | 每數位資料集3,000元 |
*申請數位資料集,均需另支付行政處理費,不分申請數位資料集件數,每申請案5,000元。
*臺灣人體生物資料庫資料及檢體使用費費率調整,於108年9月1日起, 正式實施採用新收費標準。
*目前數位資料集筆數為可釋出量,實際筆數依據當次申請案通過時間核定,該期間會因個案退出而有所異動。
通過申請案
高雄榮民總醫院 | 利用大數據探討台灣漢族warfarin代謝基因分布並建立兒童臨床治療 |
國家衛生研究院 | 台灣人群複雜表型的全性狀組全基因組關聯性研究 |
中央大學 | 桃園地區慢性疾病之共病網絡與基因分析 |
生物技術開發中心 | 精準醫療大數據生物標記開發 |
國家衛生研究院 | 肥胖症之整合性智慧醫療研究—國人肥胖多重體學資料庫之建立 |
中央研究院 | 運用台灣人體生物資料庫之全基因體甲基化、定型及定序資料分析探討作息不規律對癌化的影響 |
臺灣大學:附醫 | 基因變異因子的分析: 鑑定血癌前期之高危險族群以立早期篩選及個人化醫療 |
高雄醫學大學 | 使用機器學習演算法分析金屬毒理的生態遺傳學-從遺傳多態性和表觀遺傳學到風險評估 |
中央研究院 | 應用台灣人體生物資料庫進行全表型組關聯分析以探討人類基因變異與台灣常見慢性疾病風險 |
高雄醫學大學 | 新興環境污染物的共暴露對腎臟傷害之影響:從動物及人體研究至風險評估 |
臺北醫學大學 | 生活習慣、基因多型性和中醫體質與認知功能障礙的相關性 |
臺北醫學大學 | 同時探討基因與生活習慣危險因子對於心腦血管疾病的危險性 |
國家衛生研究院 | 基因與環境對於心血管代謝性狀及相關疾病的影響及風險評估 |
中國醫藥大學 | 探討基因對於第二型糖尿病發病年齡的影響及其與其他共病之相關性 |
長庚大學 | 臺灣全基因組及表觀遺傳人體整合資料庫 |
臺灣大學 | 具檢定力的基因環境交互作用方法發展與應用 |
慈濟醫院_臺北 | 骨質密度與中醫體質量表、亞洲骨鬆自我評量表(OSTA)及生活環境影響因子的相關性研究─臺灣人體生物資料庫大數據分析 |
臺北醫學大學 | 結合全基因組連鎖分析與次世代定序方法尋找遺傳性大腸直腸癌致病基因 |
中山醫學大學 | 慢性疾病時空電子地圖的建構與改良及臺灣人體生物資料庫的加值應用(第五年至第七年) |
成功大學:附醫 | 青春期時間對青年人體重狀態和代謝症候群的性別雙型性影響:臺灣人體生物資料庫的基因體資料分析 |
高雄榮民總醫院 | 利用大數據探討台灣漢族warfarin代謝基因分布並建立兒童臨床治療精準用藥模式 |
馬偕醫學院 | 探討台灣不同性別族群虛證與瘀證的盛行率及其相關因素研究 |
中央研究院 | 利用深度學習技術開發智慧醫學研究平台 |
三軍總醫院_內湖 | 探討單核苷酸多態性、代謝體、DNA甲基化、健康行為與心血管代謝疾病風險之相關性 |
臺灣大學:附醫 | 整合全基因體分析在台灣生物資料庫尋找膽結石、和腎結石的致病基因 |
中國醫藥大學 | 臺灣社區民眾之中西醫療及藥物使用的疾病病程、癌症預後、存活率與血清生化值、中醫體質、全基因體定型、腸道菌叢之相關性研究 |
彰化師範大學 | 成人生活型態與健康的縱貫性研究:基因型的角色 |
成功大學 | 嘉磷塞與重金屬共暴露對於慢性腎臟病之風險評估與提出管理建議 |
馬偕紀念醫院_臺東 | 探討多重慢性病患者之中醫體質及其相關因子 |
長庚紀念醫院_林口 | 人類白血球抗原基因分型與疾病發生與用藥潛在風險之病歷回溯性研究 |
臺中榮民總醫院 | 在不同資料庫藉由飲食、生活型態、體質、生化指標、與基因探討慢性相關疾病的多面向預測因子 |
中國醫藥大學 | 利用族群規模之家族研究探討主要精神疾病之遺傳架構 |
中山醫學大學 | 以臺灣人體生物資料庫鑑別高尿酸血症與誘發痛風之新穎關聯基因 |
臺灣大學 | 以高效能計算加速深度學習模型[訓練-以基因變異辨認為案例研究 |
中國醫藥大學:附醫 | 探討台灣人各種疾病之關聯性及相關基因突變分析與甲基化體之間的交互作用 |
中國醫藥大學 | 發炎與糖尿病腎病變之遺傳風險評分預測模型及孟德爾隨機化分析 |
長庚大學 | 評估多基因風險分數模型以預測台灣族群之鼻咽癌風險 |
國家衛生研究院 | 胰臟癌之環境、基因流行病學及治療預後之相關研究 |
長庚紀念醫院_林口 | 建立我國思覺失調症患者多基因風險評量分數 |
成功大學:附醫 | 探討頭頸癌的環境、基因風險及預後因子以建立個人化的預防和治療策略 |
交通大學 | 「客家基因溯源與疾病關聯性分析:社會學與生物學的對話п」 |
國防醫學院 | 基因多型性、血漿葉酸濃度、肺功能、代謝症候群與過敏及自體免疫疾病關聯性探討 |
馬偕醫學院 | 中年女性飲食行為、身體檢測與中醫體質之相關研究 |
中央研究院 | 使用因果中介模型來研究台灣人體生物資料庫中紫外線、空氣污染、以及基因體結構變異之間的因果關係 |
中央研究院 | 臺灣人口基因變異分析 |
中國醫藥大學 | 尋找並驗證中風疾病之蛋白質與代謝物生物標誌 |
臺灣大學 | 全基因體數據在YSNP與YSTR分型可靠性之評估 |
臺灣大學:附醫 | KIR基因型鑑定平台之建立和臺灣族群KIR基因型頻率分佈之研究 |
臺北醫學大學:附醫_萬芳 | 萬芳、奇美、花蓮慈濟三院聯合癌症中心計畫-聚焦大腸癌研究 |
中國醫藥大學 | 以暴露體學與基因體巨量資料為基礎探討多種慢性病與複雜性疾病之相關成因與影響因素 |
高雄榮民總醫院 | 偵測尿液中微型核糖核酸表現做為非侵入性診斷膀胱癌的生物標記 |
陽明大學 | 精準醫療:胃癌血漿生物指標開發計畫 |
中央研究院 | 探討腸道菌叢的組成與心肌梗塞的相關性 |
高雄榮民總醫院 | 中醫體質與其他疾病資料庫研究之3年計畫-台灣地區中醫體質、慢性病及其他疾病醫療照護的研究 |
臺北榮民總醫院 | 運用次世代定序分析技術探討腎絲球腎炎與足細胞病變 |
臺灣大學:附醫 | 「遺傳疾病」次世代基因分析套組之建立 |
長庚紀念醫院_林口 | 使用高通量分子平台發展台灣失智症之相關基因篩檢 |
慈濟醫院_臺北 | 運用高通量技術建立注意力不足過動症與其他兒少精神疾病之輔助檢測平台 |
陽明大學 | 台灣常見癌症發生風險預測模型之建立與驗證 |
臺北醫學大學 | 環境因素和基因多形性與口腔鱗狀細胞癌的發生和預後風險之相關性 |
高雄醫學大學 | 國人環境因子暴露對成人健康之影響 |
成功大學 | 影響抗癲癇藥物與綜合維生素補充劑療效之藥物基因體學研究 |
國泰綜合醫院 | 靜脈曲張與基因的關係 |
臺北醫學大學 | 從一等尊親屬患有乳癌而自身健康的台灣女性中辨識新的乳癌易感性基因與表觀遺傳標記 |
清華大學 | 多種複雜性疾病之基因體關聯性分析 |
臺中榮民總醫院 | 運用家族史攝護腺癌患者找尋癌症相關基因變異 |
臺北市立大學 | 室內外空氣污染物、日常活動及生理節律基因對於慢性發炎性呼吸道疾病之效應與交互作用 |
長庚大學 | 建立癌症突變特徵資料庫與整合分析平台 |
中央研究院 | 空氣品質與國人疾病之相關性探討及國人健康促進計畫-2 |
臺北榮民總醫院 | 利用臺灣生物資料庫探討乾眼症族群與健康人族群之問卷、生理檢測與基因之差異 |
長庚紀念醫院_高雄 | 利用台灣人體生物資料庫合併機器學習方法來預測骨質疏鬆之狀況 |
中央研究院 | PRAP1在脂肪恆定之功能及作用機轉研究 |
中央研究院 | 藥物不良反應之藥物基因體學研究 |
臺北榮民總醫院 | 家族性中風的致病基因及表現型研究 |
陽明大學 | 人類白血球抗原基因多型性及殺傷細胞免疫球蛋白樣受體之基因填補法全球合作聯盟 |
三軍總醫院_內湖 | 以臺灣人體生物資料庫(Taiwan Biobank)觀察台灣地區UDP-Glucuronosyltransferase 1A1基因多型性 |
臺中榮民總醫院 | 芳香烴受體在糖尿病視網膜病變中角色之探討 |
臺中榮民總醫院 | 全基因關聯性研究探討輸血不良反應之基因鑑定 |
中央研究院 | 利用資料庫資訊建立臺灣族群參考資料 |
中央研究院 | 開發大型人體生物資料庫與健康資料庫之統計分析方法與工具–以台灣人體生物資料庫和台灣全民健保資料庫資料為基礎 |
成功大學 | 應用空間資訊技術以探討氣候變遷下空氣污染與環境綠蔽度對人類健康之影響 |
生物技術開發中心 | 台灣地區 PCSK9 基因型與高血脂症之相關性研究 |
中央研究院 | 臺灣人類基因組研究計畫 |
長庚紀念醫院_林口 | 滅殺除癌錠(Methotrexate)引發毒性之藥物基因體研究 |
臺灣大學:附醫 | 探討台灣族群中Adducin與Ouabain相關基因多型性與高血壓患者伴隨心臟與腎臟損傷之關聯性研究 |
成功大學 | 大腸直腸癌罹癌族群年輕化之病因探討及預防對策 |
長庚紀念醫院_高雄 | 制定糖尿病前瞻性個人化的治療策略 |
衛福部:中醫藥研究所 | 中醫藥之疾病預防與臨床效益評估 |
中國醫藥大學 | 探討EZH2與其標的微核糖核酸在腫瘤微環境與轉移的角色 |
中央研究院 | 尋找與大腸直腸癌易感性與癌症演進相關的基因與致癌性miRNA研究合作計劃(3) |
臺灣大學:附醫 | 多重系統退化症於脂筏、alpha-synuclein沉積/傳播與膽固醇代謝三者間的病生理機轉 |
高雄醫學大學 | 基因-環境交互作用誘發氣喘及過敏性疾病之研究 |
臺北榮民總醫院 | NOTCH3 基因典型突變於台灣族群散發型腔隙性腦中風及微症狀腦部白質病變之盛行率與功能驗證 |
生物技術開發中心 | 精準治療診斷系統建置及伴同式診斷技術開發 |
長庚大學 | 連結基因體、蛋白質體與代謝體之分子改變探討口腔癌致病機轉與轉譯醫學應用 |
長庚紀念醫院_林口 | 台灣腦癌病人之可標靶基因突變驗證 |
中國醫藥大學:附醫 | 利用條件性基因剔除鼠及慢性腎臟病患的單核苷酸多態性,探討半乳糖凝集素-3在巨噬細胞及腎臟纖維化的角色 |
臺北醫學大學:附醫_萬芳 | 憂鬱症及思覺失調症之病情嚴重度與各類甲基供給體濃度間的關聯性 |
台北捐血中心 | 利用台灣人體生物資料庫分析台灣人血型基因型頻率及應用 |
長庚紀念醫院_林口 | 利用次世代基因定序為基礎針對台灣有家族群聚性的第1型糖尿病家族基因變異之研究 |
中央研究院 | 利用臺灣人體生物資料庫之全基因體定序資料探索臺灣高血壓、高血脂及糖尿病的致病變異點位 |
馬偕紀念醫院_臺北 | 基因型(Genotype)對於心血管疾病之影響:臺灣人體生物資料庫之全國性研究 |
臺灣大學:附醫 | 台灣人群中分析止痛藥常見副作用-全基因體關聯研究 |
長庚紀念醫院_林口 | 痛風及降尿酸藥物與多重共病的關係:流行病學與孟德爾隨機研究 |
長庚紀念醫院_基隆 | 台灣乾癬病人的基因與乾癬嚴重度、共生病、體內氧化壓力和療效相關性研究 |
臺中榮民總醫院 | 基因、環境、行為對代謝症候群、癌症和相關慢性病的交互作用及風險評估 |
長庚紀念醫院_林口 | 全基因組關聯分析驗證中、重度子宮頸上皮內贅瘤的宿主特性之研究 |
馬偕紀念醫院_臺北 | 晝夜節律失調相關疾病之基因體學暨代謝質體學之研究探討 |
中國醫藥大學:附醫 | 評估表現體相關性研究於中醫體質與臨床疾病之應用-以台灣人體生物資料庫之橫斷性前驅研究為例 |
長庚大學 | 褪黑激素之遺傳研究與對代謝性狀的貢獻 |
臺中榮民總醫院 | 腸病毒71型基因型態與預後研究 |
成功大學:附醫 | 衛福部第二期(103-106年)癌症研究計畫。Program 1, Theme 1:上呼吸消化道癌症之環境、基因流行病學及治療預後之相關研究 |
臺灣大學 | 探討癌症關連性基因之基因型頻率與乳癌發生風險之相關性 |
臺灣大學:附醫 | 循環游離核酸之甲基化生物標記 於肺癌病人診斷及疾監測的臨床角色 |
衛福部:中醫藥研究所 | 台灣民眾中醫體質流行病學研究之基礎建置 |
中國醫藥大學:附醫 | 尋找並建立漢人糖尿病併發症之生物標誌 |
中山醫學大學 | 105年臺中市后里區、西屯區、大雅區及港區(大肚、清水、沙鹿、梧棲、龍井)居民空氣污染物暴露評估計畫 |
臺灣大學:附醫 | 粒線體調控物角質素8及18基因變異以及粒線體ND6基因之核醣核酸表現對於抗結核藥物性肝炎之性別特異性風險之影響 |
陽明大學 | 建立台灣族群代謝、免疫及發炎反應基因多型性圖譜並評估其與慢性肝臟疾病及肝細胞癌之關聯性研究 |
臺灣大學:附醫 | 探討臺灣先天致命性心律不整疾病基因突變現況及建立全國性罕見基因相關心律不整本土性數據 |
慈濟醫院_臺北 | 以全基因組關聯性研究及候選基因途徑探討台灣人動脈硬化性心血管疾病及其危險因子之遺傳決定因子及其預後之獨立影響因子 |
臺北醫學大學 | 建構乳癌基因體甲基化變異及基因突變之早期偵測系統 |
臺北榮民總醫院 | 陣發性運動障礙症之遺傳學與大腦皮質功能異常之關聯 |
高雄醫學大學 | 氣喘與共併症之環境與基因相關分析 |
中山醫學大學:附醫 | 利用全基因體定序尋找肝癌病人其體細胞突變基因和基因多型性與環境因子之關聯 |
臺北醫學大學 | 探討ITPKC調控鈣離子途徑基因群之基因分型在骨質疏鬆症的風險性評估 |
成功大學 | 資料探勘與雙極性分析-以GWAS為例 |
陽明大學 | 尋找人類近期演化基因體的印痕及其對研究常見疾病易感性的運用 |
臺灣大學 | 以生物偵測探究食源性暴露與健康風險控管 |
中央研究院 | 台灣地區人口端粒長度調查與影響因子分析 |
三軍總醫院_北投 | Akt/GSK-3 及Wnt 訊息傳遞路徑在思覺失調症共病第二型糖尿病中扮演的角色 |
成功大學 | 化學治療所導致神經病變之個體差異化研究 |
中山醫學大學 | 確認全基因體於雌性激素受體調控起動區序列上的變異對乳癌進展的關聯性分析 |
高雄大學 | 探討痛風發作及高尿酸血症的相關基因 |
高雄醫學大學 | 血中多重金屬對氧化壓力的生物指標與生化及健康效應的世代研究:風險因子,易感性和相關性的探討 |
臺灣大學:附醫 | 利用台灣人體生物資料庫之檢體及資料而進行基因醫學相關區域之變異點分析 |
臺灣大學 | 開發及建置臺灣GIS致胖環境監測系統(103-104年) |
中央研究院 | 利用大數據人體資料尋找臺灣族群新陳代謝相關疾病危險因子 |
中央研究院 | 第二型糖尿病基因研究合作計畫 |
中央研究院 | 利用台灣生物資料庫探討成人肺功能變化之全基因體關聯研究 |
臺灣大學:附醫 | 建立藥品基因體學檢測平台並找尋藥品異常反應之可能致病基因 |
中國醫藥大學:附醫 | 臺灣人體生物資料庫泌尿道上皮癌之生物標誌研發之生物標誌 |
臺北醫學大學 | 種族遺傳基因之差異性分析 | 中央研究院 | 台灣肥胖、代謝症候群與高尿酸血症族群之特性研究 |
國家衛生研究院 | 複雜型疾病複合基因之多點相關搜尋 |
臺北醫學大學 | 應用全民健保資料庫探討與追蹤臺灣人體生物資料庫個案健康狀況之研究 |
中央研究院 | 建立Affymetrix Axiom 單一核苷酸多型性生物晶片資料分析方法與系統 |
中央研究院 | 結合dbGaP和TW Biobank資料庫以偵測整合分析下族群異質性分析 |
國家衛生研究院 | 基因與環境對於新陳代謝及心血管相關性狀的影響及風險評估 |
臺灣大學 | 分析台灣地區與情感性精神疾病相關病徵之關聯性基因檢測晶片研究分析 |
長庚紀念醫院_林口 | 以次世代定序技術分析珀茨-傑格斯症候群的致病基因及臨床轉譯應用 |
臺灣大學:附醫 | 心房顫動基因研究 |
臺北醫學大學 | 亨丁頓關聯蛋白調控的囊泡運輸相關之神經退化疾病生物標誌 |
中國醫藥大學 | 由基因演化探討古DNA與現代人DNA基因譜系之相關 |
中央研究院 | 台灣華人第一型双極性情感性精神疾病的分子遺傳與藥物遺傳研究 |
中山醫學大學:附醫 | 透過已知及新穎的口腔癌生物標誌,建立口腔癌及其癌前病變的新穎診斷晶片 |
中央研究院 | 微小核糖核酸等游離核酸在腸胃道癌症病患尿液的表現 |
中國醫藥大學 | 利用全基因關聯性研究於影響人類身高差異性之基因鑑定與功能性探討 |
臺灣大學:附醫 | 環境與基因交互作用造成台灣乳癌病患急速增加的成因:針對環境荷爾蒙與雌激素生成或代謝相關基因多樣性之病例對照研究 |
中國醫藥大學:附醫 | 建立檳榔依賴與口腔癌前期病變藥物戒斷臨床試驗 |
中央研究院 | NTCP 遺傳標記與B 型肝炎病毒感染之相關研究 NTCP and HBV infection: a genetic association study |
臺北榮民總醫院 | 偏頭痛及阿茲海默氏症之全基因體關聯性研究 |
義大醫院 | ADAMTS13之臨床功能分析與慢性腎臟病患與嚴重高血壓患者之相關性研究 |
資料及檢體釋出數量統計
一般參與者
資料釋出成果
Research Square. (2021) |
The Influential Associating Factors for Primary Dysmenorrhea: A Propensity Score-matched Analysis.(Abstract) Chang, Y. -H.,et al. |
Int. J. Environ. Res. Public Health. (2021) |
Gender Differences in the Relationships among Metabolic Syndrome and Various Obesity-Related Indices with Nonalcoholic Fatty Liver Disease in a Taiwanese Population.(Abstract) Lin, I.-T.,et al. |
Genes. (2021) |
Functional Haplotype of LIPC Induces Triglyceride-Mediated. Suppression of HDL-C Levels According to Genome-Wide. Functional Haplotype of LIPC Induces Triglyceride-Mediated Suppression of HDL-C Levels According to Genome-Wide Association Studies.(Abstract) Liao. Y.-H.,et al. |
Medicine. (2021) |
Association between dry eye and traditional Chinese medicine body constitutions: A Taiwanese adults study.(Abstract) Chen, S.-L.,et al. |
Scientific Reports. (2021) |
Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes.(Abstract) Chou, Y.-C.,et al. |
IEEE Xplore. (2021) |
Genome-Wide Association Study (GWAS) on Metabolic Syndrome in Subjects with Abdominal Obesity in a Taiwanese Population.(Abstract) Yeh, K.-H.,et al. |
Genes. (2021) |
Causal Relationship between Adiponectin and Diabetic Retinopathy: A Mendelian Randomization Study in an Asian Population.(Abstract) Huang, Y.-C.,et al. |
J. Pers. Med. (2020) |
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.(Abstract) Hong, S.-Y.,et al. |
Postgraduate Medicine. (2020) |
The effect of cholecystectomy on the risk of acute myocardial infarction in patients with gallbladder stones.(Abstract) Chen, C.-H.,et al. |
Brain. (2020) |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.(Abstract) Lin, C.-.,et al. |
Virology Journal. (2020) |
Sero-prevalence of human immunodeficiency virus–hepatitis B virus (HIV–HBV) co-infection among pregnant women attending antenatal care (ANC) in sub-Saharan Africa (SSA) and the associated risk factors: a systematic review and meta-analysis.(Abstract) Hussein Mukasa Kafeero,et al. |
J. Pers. Med. (2020) |
Association of UBE3C Variants with Reduced Kidney Function in Patients with Diabetic Kidney Disease.(Abstract) Chen, Y.-C.,et al. |
Environmental Health and Preventive Medicine. (2020) |
PM2.5 exposure and DLEC1 promoter methylation in Taiwan Biobank participants.(Abstract) Chou, Y.-H.,et al. |
Scientific Reports. (2020) |
Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.(Abstract) Lin, Y.-S.,et al. |
Medicine. (2020) |
Interactive associations of sex and hyperlipidemia with calcific tendinitis of the shoulder in Taiwanese adults(Abstract) Lin, C.-C.,et al. |
Biology (Basel). (2020) |
Evaluation for the Genetic Association between Store-Operated Calcium Influx Pathway (STIM1 and ORAI1) and Human Hepatocellular Carcinoma in Patients with Chronic Hepatitis B Infection.(Abstract) Lalu Muhammad Irham,et al. |
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Association Testing and Detection of Copy Number Variants on the Global and Local Scale.(Abstract) Amanda Ruth Brucker |
Molecular Biology and Evolution. (2020) |
Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People.(Abstract) Lo, Y.-H.,et al. |
Journal Annals of Human Biology. (2020) |
Genomic insight into the population history of central Han Chinese.(Abstract) Yang, X.-M.,et al. |
Current Medicinal Chemistry. (2020) |
The association between migraine and depression based on miRNA biomarkers and cohort studies.(Abstract) Chen, Y.-H.,et al. |
Genes. (2020) |
Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.(Abstract) Sung, Y.-C.,et al. |
Nature Communications. (2020) |
Towards a reference genome that captures global genetic diversity.(Abstract) Wong, K. H.-Y.,et al. |
Brain Sciences. (2020) |
Rare VPS35 A320V Variant in Taiwanese Parkinson’s Disease Indicates Disrupted CI-MPR Sorting and Impaired Mitochondrial Morphology.(Abstract) Wu, Y.-R.,et al. |
Scientific Reports. (2020) |
CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption.(Abstract) Chen, I.-C.,et al. |
Journal of Personalized Medicine. (2020) |
Gender Differences in Genetic Associations of RAB38 with Urinary Protein-to-Creatinine Ratio (UPCR) Levels in Diabetic Nephropathy Patients.(Abstract) Yu, Z.-L.,et al. |
Evidence-Based Complementary and Alternative Medicine. (2020) |
Constitutions of Deficiency and Stasis of Traditional Chinese Medicine and Related Factors among Middle-Aged Women in Taiwan.(Abstract) Chen, P.-H.,et al. |
Hong Kong Journal of Emergency Medicine. (2020) |
Association between the frequency of admission for pneumonia and the incidence of in-hospital cardiac arrest: A population-based case–control study.(Abstract) Hsu, Y.-R.,et al. |
The Changhua Journal of Medicine. (2020) |
Finnish Type Congenital Nephrotic Syndrome With Exon Sequencing Confirmation in Taiwan: A Case Report.(Abstract) Chen, S.-J.,et al. |
Aging Cell. (2020) |
miR‐195 reduces age‐related blood–brain barrier leakage caused by thrombospondin‐1‐mediated selective autophagy.(Abstract) Chen, C.-Y.,et al. |
Research Square. (2020) |
Met Mutation is a Potential Therapeutic Target for Advanced Endometrial Cancer.(Abstract) Yeh, Y.-M.,et al. |
Scientific Reports. (2020) |
NT5C2 methylation regulatory interplay between DNMT1 and insulin receptor in type 2 diabetes.(Abstract) Chen, Y.-T.,et al. |
Chemistry – An Asian Journal. (2020) |
SLC38A2 Overexpression Induces a Cancer‐like Metabolic Profile and Cooperates with SLC1A5 in Pan‐cancer Prognosis.(Abstract) Huang, M.-S.,et al. |
Pediatric Allergy and Immunology. (2020) |
Functional Correlations between CXCL10/IP10 Gene Polymorphisms and Risk of Kawasaki Disease.(Abstract) Hsu, Y.-W.,et al. |
Diabetes. (2020) |
Active Cigarette Smoking is Associated with an Exacerbation of Genetic Susceptibility to Diabetes.(Abstract) Lin, W.-Y.,et al. |
Journal of the Formosan Medical Association. (2020) |
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.(Abstract) Yeh, H. M.,et al. |
Neurobiology of Aging. (2020) |
Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson’s disease in a Taiwanese population.(Abstract) Chen, S.-J.,et al. |
Scientific Reports. (2020) |
Genome-wide association study for circulating fibroblast growth factor 21 and 23.(Abstract) Chuang, G. T.,et al. |
PLOS ONE. (2020) |
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.(Abstract) Huang, W.-C.,et al. |
Molecular Genetics & Genomic Medicine. (2020) |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.(Abstract) Kuo, C.-W.,et al. |
Frontiers in Genetics. (2020) |
Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta.(Abstract) Tang, Y.-A.,et al. |
Neurology Genetics. (2020) |
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation.(Abstract) Jih, K.-Y.,et al. |
Journal of Translational Medicine. (2020) |
Transformation of the Taiwan Biobank 3.0: vertical and horizontal integration.(Abstract) Lin, J.-C.,et al. |
Scientific Reports. (2020) |
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.(Abstract) Lee, I. C.,et al. |
Circulation : Genomic and Precision Medicine. (2020) |
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients.(Abstract) Pua, C. J.,et al. |
Clinical Epigenetics (2020) |
AHRR cg05575921 methylation in relation to smoking and PM2.5 exposure among Taiwanese men and women.(Abstract) Tantoh, D. M.,et al. |
Medicine (2020) |
Association between periodontitis and bipolar disorder.(Abstract) Chang, K.-H.,et al. |
Research Square. (2020) |
The Association between Self-reported Osteoporosis and Chinese Medicine-Constitution Questionnaire-A Cross-Sectional Taiwan Biobank Study.(Abstract) Yang, H.-H.,et al. |
Ocular Immunology and Inflammation (2020) |
Relationship between Uveitis and Thyroid Disease: A 13-Year Nationwide Population-based Cohort Study in Taiwan.(Abstract) Lin, C. J.,et al. |
EBioMedicine (2020) |
GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death. (Abstract) Juang, J. M. J.,et al. |
BMJ Evidence-Based Medicine. (2017) |
Stroke rates vary substantially across cohorts of patients with atrial fibrillation Implications for practice.(Abstract) Sposato, L. A.,et al. |
EP Europace. (2020) |
Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence.(Abstract) Huang, P.-S.,et al. |
Translational Psychiatry. (2020) |
Association of early-onset Alzheimer's disease with germline-generated high affinity self-antigen load.(Abstract) Huang, P.,et al. |
BioMed Research International. (2019) |
The Incidence and Risk Factors of Hip Fracture after Liver Transplantation (LT): A Nationwide Population-Based Study.(Abstract) Chiu, Y.-C.,et al. |
Proceedings of the National Academy of Sciences. (2020) |
DNA-induced 2′3′-cGAMP enhances haplotype-specific human STING cleavage by dengue protease.(Abstract) Su, C.-I.,et al. |
Alimentary Pharmacology & Therapeutics. (2020) |
Large-scale genome-wide association study identifies HLA class II variants associated with chronic HBV infection: a study from Taiwan Biobank.(Abstract) Huang, Y.-H.,et al. |
Scientific Reports. (2020) |
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.(Abstract) Liu, J.,et al. |
Biochemical and Biophysical Research Communications. (2020) |
Genetic variants that influence SARS-CoV-2 receptor TMPRSS2 expression among population cohorts from multiple continents.(Abstract) Irham, L. M.,et al. |
Journal of Psychiatric Research. (2020) |
Indicators of rapid cognitive decline in amnestic mild cognitive impairment: The role of plasma biomarkers using magnetically labeled immunoassays.(Abstract) Tsai, C.-L.,et al. |
Human Molecular Genetics. (2020) |
Sex-specific autosomal genetic effects across 26 human complex traits.(Abstract) Lin, W.-Y.,et al. |
PLOS ONE. (2020) |
Population based retrospective cohort study on risk of retinopathy of prematurity in twins.(Abstract) Tseng, H.-C.,et al. |
J Clin Endocrinol Metab. (2020) |
Genetic Architecture Associated With Familial Short Stature.(Abstract) Lin, Y.-J.,et al. |
Sleep Medicine. (2020) |
An association study in the Taiwan Biobank reveals RORA as a novel locus for sleep duration in the Taiwanese Population.(Abstract) Hou, S.-J.,et al. |
Current Medicinal Chemistry. (2020) |
The association between depression and gastroesophageal reflux based on phylogenetic analysis of miRNA biomarkers.(Abstract) Chen, Y.-H.,et al. |
BMC Complementary Medicine and Therapies. (2020) |
The risk of coronary artery disease in patients with rheumatoid arthritis using Chinese herbal products and conventional medicine in parallel: a population-based cohort study.(Abstract) Yu, H.-H.,et al. |
Diabetes Care. (2020) |
Incidence of Type 2 Diabetes in Patients With Chronic Hepatitis C Receiving Interferon-Based therapy.(Abstract) Tsai, M. C.,et al. |
Menopause. (2020) |
Association between osteoporosis and menopause in relation to SOX6 rs297325 variant in Taiwanese women.(Abstract) Hsu, T.-L.,et al. |
Environmental Research and Public Health. (2020) |
Increased risk of sensorineural hearing loss as a result of exposure to air pollution.(Abstract) Chang, K. H.,et al. |
Genetic Epidemiology. (2020) |
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status.(Abstract) Feng, H.,et al. |
Cancers. (2020) |
Association of cholecystectomy with the risk of prostate cancer in patients with gallstones.(Abstract) Chen, C. H.,et al. |
Adis Journals. (2020) |
Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study.(Abstract) Huang, Y. H.,et al. |
Pharmacogenomics Journal. (2020) |
A high-resolution HLA imputation system for the Taiwanese population: a study of the Taiwan Biobank.(Abstract) Huang, Y. H.,et al. |
Biomolecules. (2020) |
Interaction between sex and LDLR rs688 polymorphism on hyperlipidemia among Taiwan biobank adult participants.(Abstract) Liu, Y.-T.,et al. |
Circulation: Genomic and Precision Medicine. (2020) |
Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated with Brugada Syndrome: SADS-TW BrS Registry.(Abstract) Juang, J.-M. J.,et al. |
Annals of Clinical and Translational Neurology.. (2020) |
Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variant.(Abstract) Tsai, Y.-S.,et al. |
Nutrients. (2020) |
Combination of Exercise and Vegetarian Diet: Relationship with High Density-Lipoprotein Cholesterol in Taiwanese Adults Based on MTHFR rs1801133 Polymorphism.(Abstract) Chang, S.-L.,et al. |
Journal of Clinical Oncology. (2020) |
Genome-wide association analysis in host genetic characteristics of progression to high-grade cervical intraepithelial neoplasia or higher for women with human papillomavirus infection and normal cytology.(Abstract) Lai, C.-H.,et al. |
Frontiers in Genetics. (2020) |
Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.(Abstract) Chen, C.-H.,et al. |
Movement Disorders. (2020) |
Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene(Abstract) Fu, M.-H.,et al. |
Diagnostics. (2020) |
Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound(Abstract) Chang, T.-Y.,et al. |
The Cerebellum. (2020) |
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.(Abstract) Chiu, H.-H.,et al. |
Nutrients. (2020) |
Interaction between Coffee Drinking and TRIB1 rs17321515 Single Nucleotide Polymorphism on Coronary Heart Disease in a Taiwanese Population.(Abstract) Liu, Y.-T.,et al. |
PLOS ONE. (2020) |
Blood multiomics reveal insights into population clusters with low prevalence of diabetes, dyslipidemia and hypertension.(Abstract) Su, M.-W.,et al. |
Journal of the Neurological Sciences. (2020) |
Predicting major neurologic improvement and long-term outcome after thrombolysis using artificial neural networks.(Abstract) Chung, C. C.,et al. |
Menopause. (2020) |
Relationship between BRSK1 rs12611091 variant and age at natural menopause based on physical activity.(Abstract) Su, C.-L.,et al. |
Genes, Brain and Behavior. (2020) |
Association between polygenic liability for schizophrenia and substance involvement: A nationwide population-based study in Taiwan.(Abstract) Wang, S. H.,et al. |
Viruses. (2020) |
Chronic hepatitis B virus infection associated with increased colorectal cancer risk in Taiwanese population.(Abstract) Su, F. H.,et al. |
European Heart Journal. (2020) |
The prevalence and role of SCN10A variants in Han Chinese patients with Brugada syndrome: the SADS-TW BrS registry.(Abstract) Chen, C.-Y.,et al. |
BMJ Open Diabetes Res Care. (2020) |
Lack of association of genetic variants for diabetic retinopathy in Taiwanese patients with diabetic nephropathy.(Abstract) Hsieh, A. R.,et al. |
Cephalalgia. (2020) |
HLA class I alleles are associated with clinic-based migraine and increased risks of chronic migraine and medication overuse.(Abstract) Huang, C.,et al. |
Nutrients. (2019) |
The Impact of Aerobic Exercise and Badminton on HDL Cholesterol Levels in Adult Taiwanese.(Abstract) Nassef, Y.,et al. |
Int J Mol Sci. (2019) |
Interaction of Osteoarthritis and BMI on Leptin Promoter Methylation in Taiwanese Adults.(Abstract) Yang, T.-P.,et al. |
Medicine. (2019) |
Single-nucleotide polymorphism of rs7944135 (macrophage-expressed gene 1) is associated with hepatitis B surface antigen seroclearance in chronic hepatitis B infection.(Abstract) Irham, L. M.,et al. |
BMC Genetics. (2019) |
Genome-wide association study of morbid obesity in Han Chinese.(Abstract) Chiang, K.-M.,et al. |
Journal of Cancer. (2019) |
Effects of MACC1 polymorphisms on hepatocellular carcinoma development and clinical characteristics Running Title: MACC1 polymorphism in HCC.(Abstract) Lin, C.-H.,et al. |
J Diabetes Complications. (2019) |
Risk of hyperglycemic crisis episode in diabetic patients with depression: A nationwide population-based cohort study.(Abstract) Lee, H.-M.,et al. |
Sci Rep. (2019) |
Plasma Transthyretin as a Predictor of Amnestic Mild Cognitive Impairment Conversion to Dementia.(Abstract) Tien, Y. T.,et al. |
Neurology. (2019) |
NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.(Abstract) Lee, Y.-C.,et al. |
Journal of Biomedical Science. (2019) |
The functional roles of IGF-1 variants in the susceptibility and clinical outcomes of mild traumatic brain injury.(Abstract) Wang, Y.-J.,et al. |
The Journal of Clinical Endocrinology & Metabolism. (2019) |
The Causal Relationship of Circulating Triglycerides and Glycated Hemoglobin: A Mendelian Randomization Study.(Abstract) Hsiung, C.-N.,et al. |
Geriatr Gerontol Int. (2019) |
Effect of vitamin D on cognitive function and white matter hyperintensity in patients with mild Alzheimer’s disease.(Abstract) Shih, E.,et al. |
Sci Rep. (2019) |
The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.(Abstract) Chen, W. C.,et al. |
International Journal of Obesity. (2019) |
The causal role of elevated uric acid and waist circumference on the risk of metabolic syndrome components.(Abstract) Biradar, M. I.et al. |
Sci Rep. (2019) |
Immune thrombocytopenic purpura increased risk of subsequent pancreatitis: A Nationwide population cohort study(Abstract) Wu, S. C.,et al. |
PLOS ONE (2019) |
A population-based cohort study examining the association of documented bladder diverticulum and bladder cancer risk in urology patients.(Abstract) Fang, C.-W.,et al. |
Genes (2019) |
Cholesteryl Ester Transfer Protein Genetic Variants Associated with Risk for Type 2 Diabetes and Diabetic Kidney Disease in Taiwanese Population.(Abstract) Huang, Y. C.,et al. |
Frontiers in Neurology (2019) |
Association and Interaction Effects of Interleukin-12 Related Genes and Physical Activity on Cognitive Aging in Old Adults in the Taiwanese Population.(Abstract) Lin, E.,et al. |
Evidence-Based Complementary and Alternative Medicine (2019) |
Using Chinese Body Constitution Concepts and Measurable Variables for Assessing Risk of Coronary Artery Disease.(Abstract) Huang, Y.-C.,et al. |
Experimental and Therapeutic Medicine (2019) |
Antizyme inhibitor 1 genetic polymorphisms associated with diabetic patients validated in the livers of diabetic mice.(Abstract) H., C. C.,et al. |
J Clin Med (2019) |
Genetic Variants of lncRNA MALAT1 Exert Diverse Impacts on the Risk and Clinicopathologic Characteristics of Patients with Hepatocellular Carcinoma.(Abstract) Yuan, L. T.,et al. |
Sci Rep. (2019) |
Clinical, pathophysiologic, and genomic analysis of the outcomes of primary head and neck malignancy after pulmonary metastasectomy.(Abstract) Lu, H. J.,et al. |
Sci Rep. (2019) |
Two truncating variants in FANCC and breast cancer risk.(Abstract) Dork, T.,et al. |
PLoS One. (2019) |
A comparative study of risk of pneumonia and mortalities between nasogastric and jejunostomy feeding routes in surgical critically ill patients with perforated peptic ulcer.(Abstract) Wu, S. C.,et al. |
Genes (Basel). (2019) |
Association between Aerobic Exercise and High-Density Lipoprotein Cholesterol Levels across Various Ranges of Body Mass Index and Waist-Hip Ratio and the Modulating Role of the Hepatic Lipase rs1800588 Variant.(Abstract) Nassef, Y.,et al. |
JAMA Netw Open. (2019) |
Association of Diabetes With All-Cause and Cause-Specific Mortality in Asia: A Pooled Analysis of More Than 1 Million Participants.(Abstract) Yang, J. J.,et al. |
Depress Anxiety. (2019) |
Association of hysterectomy with bipolar disorder risk: A population-based cohort study.(Abstract) Shen, Y. C.,et al. |
J Formos Med Assoc. (2019) |
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a noveldeletion mutation in NEU1 gene.(Abstract) Fan, S. P.,et al. |
Brain Dev. (2019) |
Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia..(Abstract) Yu, W. H.,et al. |
Neurogastroenterol Motil. (2019) |
Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan.(Abstract) Yang, W.,et al. |
Nutrients. (2019) |
Genetic and Non-Genetic Factor-Adjusted Association between Coffee Drinking and High-DensityLipoprotein Cholesterol in Taiwanese Adults: Stratification by Sex.(Abstract) Hsu, T. W.,et al. |
J Formos Med Assoc. (2019) |
HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovarysyndrome.(Abstract) Tu, Y. A.,et al. |
Postgrad Med J. (2019) |
Increased risk of non-multiple sclerosis demyelinating syndromes in patients with preexistingsepticaemia: a nationwide retrospective cohort study.(Abstract) Chou, C. H.,et al. |
Parkinsonism Relat Disord. (2019) |
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.(Abstract) Lai, K. L.,et al. |
BMC Nephrol. (2019) |
Investigation of the variants at the binding site of inflammatory transcription factor NF-κB in patients with end-stage renal disease.(Abstract) Yang, J. H.,et al. |
J Clin Med. (2019) |
Is Hyperuricemia, an Early-Onset Metabolic Disorder, Causally Associated with CardiovascularDisease Events in Han Chinese?(Abstract) Chiang, K. M.,et al. |
J Clin Med. (2019) |
LRRTM4 and PCSK5 Genetic Polymorphisms as Markers for Cognitive Impairment in A Hypotensive Aging Population: A Genome-Wide Association Study in Taiwan.(Abstract) Chen, Y. C.,et al. |
Clin Epigenetics. (2019) |
Methylation at cg05575921 of a smoking-related gene (AHRR) in non-smoking Taiwanese adultsresiding in areas with different PM2.5 concentrations.(Abstract) Tantoh, D. M.,et al. |
Ann Clin Transl Neurol. (2019) |
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.(Abstract) Hsu, Y. H.,et al. |
Hum Mutat. (2019) |
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.(Abstract) Hsiao, C. T.,et al. |
Genes (Basel). (2019) |
Physical Activity Might Reduce the Adverse Impacts of the FTO Gene Variant rs3751812 on the Body Mass Index of Adults in Taiwan.(Abstract) Liaw, Y. C.,et al. |
Data Brief. (2019) |
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan.(Abstract) Chiu, Y. H.,et al. |
J Affect Disord. (2019) |
Risk of hyperglycemic crisis episode in diabetic patients with bipolar disorder: A nationwidepopulation-based cohort study.(Abstract) Tsai, C. L.,et al. |
Clin Oral Investig. (2019) |
The association between dental therapy timelines and osteoradionecrosis: a nationwidepopulation-based cohort study.(Abstract) Huang, Y. F.,et al. |
J Cereb Blood Flow Metab. (2019) |
The functional role of hemojuvelin in acute ischemic stroke.(Abstract) Young, G. H.,et al. |
Sex Transm Infect. (2019) |
Borderline personality disorder is associated with an increased risk of sexually transmitted infections: A nationwide population-based cohort study in Taiwan.(Abstract) Chen, S. F.,et al. |
Ann Clin Transl Neurol. (2019) |
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.(Abstract) Chao, H. C.,et al. |
Cancer Cell Int 19: 87. (2019) |
Genetic variants in the circadian rhythm pathway as indicators of prostate cancer progression.(Abstract) Yu, C. C.,et al. |
Cancer Med. (2019) |
Metformin reduces prostate cancer risk among men with benign prostatic hyperplasia: A nationwide population-based cohort study.(Abstract) Kuo, Y. J.,et al. |
Int J Hyg Environ Health. (2019) |
Association between chronic obstructive pulmonary disease and PM2.5 in Taiwanese nonsmokers.(Abstract) Huang, H. C.,et al. |
Scientific Reports (2019) |
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.(Abstract) Lin, P. C.,et al. |
Int. J. Mol. Sci. (2019) |
Circulating Chemerin Levels, but not the RARRES2 Polymorphisms, Predict the Long-Term Outcome of Angiographically Confirmed Coronary Artery Disease.(Abstract) Er, L. K.,et al. |
J Clin Med (2019) |
Genome-Wide Copy Number Variation Association Study of Atrial Fibrillation Related Thromboembolic Stroke.(Abstract) Hsieh, C. S.,et al. |
Scientific Reports (2019) |
Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.(Abstract) Lee, M. T.,et al. |
Vox Sang (2019) |
Genotyping and serotyping profiles showed weak Jk(a) presentation for previously typed as Jknull donors.(Abstract) Wu, P. C.,et al. |
Sci Rep (2019) |
Assessing whether the association between rheumatoid arthritis and schizophrenia is bidirectional: A nationwide population-based cohort study.(Abstract) Chen, S. F.,et al. |
Clinical Epigenetics (2019) |
SOX2 promoter hypermethylation in non-smoking Taiwanese adults residing in air pollution areas.(Abstract) Tantoh, D. M.,et al. |
Acta Cardiol Sin (2019) |
The Utilization of Stress Tests Prior to Percutaneous Coronary Intervention for Stable Coronary Artery Disease in Taiwan.(Abstract) Yang, H. P.,et al. |
Psychiatry Research (2019) |
Functional analyses and effect of DNA methylation on the EGR1 gene in patients with schizophrenia.(Abstract) Hu, T. M.,et al. |
DNA Repair (2019) |
Polymorphisms of the DNA repair gene EXO1 modulate cognitive aging in old adults in a Taiwanese population.(Abstract) Lin, E.,et al. |
Genes (2019) |
The Interaction between Sex and Hyperlipidemia on Gout Risk Is Modulated by HLA-B Polymorphic Variants in Adult Taiwanese.(Abstract) Hsu, T. W.,et al. |
Mov Disord (2019) |
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.(Abstract) Lin, C. H.,et al. |
Circ J. (2019) |
Common Genetic Variants on Bone Morphogenetic Protein Receptor Type IB (BMPR1B) Gene Are Predictive for Carotid Intima-Media Thickness.(Abstract) Wu, Y. J.,et al. |
QJM (2019) |
Gender Difference in Clinical and Genetic Characteristics of Brugada Syndrome: SADS-TW BrS Registry.(Abstract) Chen, C. J.,et al. |
Frontiers in Genetics (2019) |
Genome-Wide Gene-Environment Interaction Analysis Using Set-Based Association Tests.(Abstract) Lin, W. Y.,et al. |
Orphanet J Rare Dis. (2019) |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.(Abstract) Hsu, R. H.,et al. |
Nutrients (2019) |
The Impact of Aerobic Exercise and Badminton on HDL Cholesterol Levels in Adult Taiwanese.(Abstract) Nassef, Y.,et al. |
J Bone Miner Res. (2019) |
A meta-analysis of genome-wide association studies identifies three loci associated with stiffness index of the calcaneus.(Abstract) Lu, H. F.,et al. |
Aging Dis. (2019) |
REST rs3796529 Genotype and Rate of Functional Deterioration in Alzheimer's Disease.(Abstract) Huang, P.,et al. |
Sci Rep. (2018) |
Body mass index modulates the association between CDKAL1 rs10946398 variant and type 2 diabetes among Taiwanese women.(Abstract) Nfor ON, Wu MF, Lee CT et al. |
Exp Ther Med. (2018) |
Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing.(Abstract) Chang WA, Sheu CC, Liu KT et al. |
Clin Oral Investig. (2018) |
Functional variant of CHI3L1 gene is associated with neck metastasis in oral cancer.(Abstract) Su CW, Chen MK, Hung WC et al. |
Int J Med Sci. (2018) |
Impact of ADAM10 gene polymorphisms on hepatocellular carcinoma development and clinical characteristics.(Abstract) Shiu JS, Hsieh MJ, Chiou HL et al. |
Brief Bioinform. (2018) |
Polygenic approaches to detect gene-environment interactions when external information is unavailable.(Abstract) Lin WY, Huang CC, Liu YL et al. |
Neurobiol Aging. (2018) |
Genetic analysis of ANXA11 variants in a Han Chinese cohort with amyotrophic lateral sclerosis in Taiwan.(Abstract) Tsai PC, Liao YC, Jih KY et al. |
Int J Med Sci. (2018) |
IGF1 Gene Is Associated With Triglyceride Levels In Subjects With Family History Of Hypertension From The SAPPHIRe And TWB Projects.(Abstract) Wang WC, Chiu YF, Chung RH et al. |
Nitric Oxide. (2018) |
Associations of genetic variations of the endothelial nitric oxide synthase gene and environmental carcinogens with oral cancer susceptibility and development.(Abstract) Su CW, Chien MH, Lin CW et al. |
Int J Med Sci. (2018) |
Impact of matrix metalloproteinase-11 gene polymorphisms upon the development and progression of hepatocellular carcinoma.(Abstract) Wang B, Hsu CJ, Lee HL et al. |
Int J Med Sci. (2018) |
Variations in the AURKA Gene: Biomarkers for the Development and Progression of Hepatocellular Carcinoma.(Abstract) Wang B, Hsu CJ, Chou CH et al. |
Exp Ther Med. (2018) |
Hematopoietically expressed homeobox gene is associated with type 2 diabetes in KK Cg-Ay/J mice and a Taiwanese Han Chinese population.(Abstract) Lu CC, Chen YT, Chen SY et al. |
Arthritis Res Ther. (2018) |
Next-generation sequencing profiling of mitochondrial genomes in gout.(Abstract) Tseng CC, Chen CJ, Yen JH et al. |
Sci Rep. (2018) |
Gene-based analysis of genes related to neurotrophic pathway suggests association of BDNF and VEGFA with antidepressant treatment-response in depressed patients.(Abstract) Kao CF, Liu YL, Yu YW et al. |
J Atheroscler Thromb. (2018) |
Associations of Common Genetic Variants on IL-17 Genes and Carotid Intima-Media Thickness.(Abstract) Wu TW, Chou CL, Chen YC et al. |
Ultrasound Obstet Gynecol. (2018) |
SMAD2 as a risk locus for human left atrial isomerism detected by mother-fetus-pair exome sequencing and image studies including fetal ultrasound.(Abstract) Shih JC, Ma GC, Cheng WC et al. |
Clin Genet. (2018) |
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.(Abstract) Jih KY, Chung CP, Chang YY et al. |
J Viral Hepat. (2018) |
Hepatitis B virus infection in Taiwan: The role of NTCP rs2296651 variant in relation to sex.(Abstract) Nfor ON, Wu MF, Debnath T et al. |
Sci Rep. (2018) |
ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.(Abstract) Chen CJ, Tseng CC, Yen JH et al. |
J Formos Med Assoc. (2018) |
A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.(Abstract) Ching YH, Yeh JI, Fan WL et al. |
Oncotarget. (2017) |
Detection of susceptibility loci on APOA5 and COLEC12 associated with metabolic syndrome using a genome-wide association study in a Taiwanese population.(Abstract) Lin E, Kuo PH, Liu YL et al. |
Oncotarget. (2017) |
Effects of circadian clock genes and environmental factors on cognitive aging in old adults in a Taiwanese population.(Abstract) Lin E, Kuo PH, Liu YL et al. |
Sci Rep. (2017) |
Transforming growth factor-β signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population.(Abstract) Lin E, Kuo PH, Liu YL et al. |
Oncotarget. (2017) |
Urine miR-21-5p as a potential non-invasive biomarker for gastric cancer.(Abstract) Kao HW, Pan CY, Lai CH et al. |
BMC Neurol. (2017) |
Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.(Abstract) Lin HC, Lin CH, Chen PL et al. |
Neurobiol Aging. (2017) |
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.(Abstract) Tsai PC, Liao YC, Chen PL et al. |
BMC Neurol. (2017) |
Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review.(Abstract) Chen YF, Chang YY, Lan MY et al. |
Oncotarget. (2017) |
A functional variant at the miRNA binding site in HMGB1 gene is associated with risk of oral squamous cell carcinoma.(Abstract) Lin CW, Chou YE, Yeh CM et al. |
Oncotarget. (2017) |
rs2841277 (PLD4) is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.(Abstract) Chen WC, Wang WC, Okada Y et al. |
J Affect Disord. (2017) |
Evaluation of the interaction between genetic variants of GAD1 and miRNA in bipolar disorders.(Abstract) Chung YE, Chen SC, Chuang LC et al. |
Hepatology. (2017) |
Human Leukocyte Antigen Variants and Risk of Hepatocellular Carcinoma Modified by HCV Genotypes: A Genome-wide Association Study.(Abstract) Lee MH, Huang YH, Chen HY et al. |
BMC Genomics. (2017) |
Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population.(Abstract) Chung RH, Chiu YF, Hung YJ et al. |
Sci Rep. (2017) |
A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.(Abstract) Lin YH, Lin YH, Lu YC et al. |
Cancer. (2017) |
Genome-wide association analysis identifies a GLUL haplotype for familial hepatitis B virus-related hepatocellular carcinoma.(Abstract) Lin YY, Yu MW, Lin SM et al. |
Sci Rep. (2017) |
Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.(Abstract) Lin YJ, Liao WL, Wang CH et al. |
Clin Cancer Res. (2017) |
The c.1085A>G genetic variant of CSF1R gene regulates tumor immunity by altering the proliferation, polarization, and function of macrophages.(Abstract) Yeh YM, Hsu SJ, Lin PC et al. |
Int J Med Sci. (2017) |
Impacts of CCL4 gene polymorphisms on hepatocellular carcinoma susceptibility and development.(Abstract) Wang B, Chou YE, Lien MY et al. |
Oncotarget. (2017) |
Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.(Abstract) Chiang YH, Chang YC, Lin HC et al. |
PLoS One. (2017) |
Effects of circadian clock genes and health-related behavior on metabolic syndrome in a Taiwanese population: Evidence from association and interaction analysis.(Abstract) Lin E, Kuo PH, Liu YL et al. |
PLoS One. (2017) |
Combined effect of genetic polymorphisms of AURKA and environmental factors on oral cancer development in Taiwan.(Abstract) Chou CH, Chou YE, Chuang CY et al. |
PLoS One. (2017) |
The ADAMTS9 gene is associated with cognitive aging in the elderly in a Taiwanese population.(Abstract) Lin E, Tsai SJ, Kuo PH et al. |
Oncotarget. (2017) |
Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population.(Abstract) Lin E, Tsai SJ, Kuo PH et al. |
Dement Geriatr Cogn Disord. (2017) |
The rs1277306 Variant of the REST Gene Confers Susceptibility to Cognitive Aging in an Elderly Taiwanese Population.(Abstract) Lin E, Tsai SJ, Kuo PH et al. |
Sci Rep. (2016) |
Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population.(Abstract) Lin E, Tsai SJ, Kuo PH et al. |
Hum Mol Genet. (2016) |
Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project.(Abstract) Chen CH, Yang JH, Chiang CW et al. |
Hum Genet. (2016) |
Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.(Abstract) Song IW, Chen HC, Lin YF et al. |
Gut. (2015) |
The rs2296651 (S267F) variant on NTCP (SLC10A1) is inversely associated with chronic hepatitis B and progression to cirrhosis and hepatocellular carcinoma in patients with chronic hepatitis B.(Abstract) Hu HH, Liu J, Lin YL et al. |
Medicine (Baltimore). (2015) |
Polymorphisms and Plasma Levels of Tissue Inhibitor of Metalloproteinase-3: Impact on Genetic Susceptibility and Clinical Outcome of Oral Cancer.(Abstract) Su CW, Huang YW, Chen MK et al. |
Neurobiol Aging. (2014) |
ABCA7 gene and the risk of Alzheimer's disease in Han Chinese in Taiwan.(Abstract) Liao YC, Lee WJ, Hwang JP et al. |
PLoS One. (2014) |
Single nucleotide polymorphisms associated with colorectal cancer susceptibility and loss of heterozygosity in a Taiwanese population.(Abstract) Yang CY, Lu RH, Lin CH et al. |