國家衛生研究院 NHRI:Item 3990099045/15130
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12145/12927 (94%)
造訪人次 : 854728      線上人數 : 792
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜尋範圍 查詢小技巧：
  • 您可在西文檢索詞彙前後加上"雙引號"，以獲取較精準的檢索結果
  • 若欲以作者姓名搜尋，建議至進階搜尋限定作者欄位，可獲得較完整資料
    •  進階搜尋
    主頁 ‧ 登入 ‧ 上傳 ‧ 說明 ‧ 關於NHRI ‧ 管理 到手機版


    請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/15130


    題名: Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
    作者: Li, X;Quick, C;Zhou, H;Gaynor, SM;Liu, Y;Chen, H;Selvaraj, MS;Sun, R;Dey, R;Arnett, DK;Bielak, LF;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Brody, JA;Cade, BE;Correa, A;Cupples, LA;Curran, JE;de Vries, PS;Duggirala, R;Freedman, BI;Göring, HHH;Guo, X;Haessler, J;Kalyani, RR;Kooperberg, C;Kral, BG;Lange, LA;Manichaikul, A;Martin, LW;McGarvey, ST;Mitchell, BD;Montasser, ME;Morrison, AC;Naseri, T;O’Connell, JR;Palmer, ND;Peyser, PA;Psaty, BM;Raffield, LM;Redline, S;Reiner, AP;Reupena, MS;Rice, KM;Rich, SS;Sitlani, CM;Smith, JA;Taylor, KD;Vasan, RS;Willer, CJ;Wilson, JG;Yanek, LR;Zhao, W;Abe, N;Abecasis, G;Aguet, F;Albert, C;Almasy, L;Alonso, A;Ament, S;Anderson, P;Anugu, P;Applebaum-Bowden, D;Ardlie, K;Dan, A;Ashley-Koch, A;Aslibekyan, S;Assimes, T;Auer, P;Avramopoulos, D;Ayas, N;Balasubramanian, A;Barnard, J;Barnes, K;Barr, RG;Barron-Casella, E;Barwick, L;Beaty, T;Beck, G;Becker, D;Becker, L;Beer, R;Beitelshees, A;Benjamin, E;Benos, T;Bezerra, M;Blackwell, T;Blue, N;Bowler, R;Broeckel, U;Broome, J;Brown, D;Bunting, K;Burchard, E;Bustamante, C;Buth, E;Cardwell, J;Carey, V, .;et al.
    貢獻者: Institute of Population Health Sciences
    摘要: Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Existing rare variant meta-analysis approaches are not scalable to biobank-scale WGS data. Here we present MetaSTAAR, a powerful and resource-efficient rare variant meta-analysis framework for large-scale WGS/WES studies. MetaSTAAR accounts for relatedness and population structure, can analyze both quantitative and dichotomous traits and boosts the power of rare variant tests by incorporating multiple variant functional annotations. Through meta-analysis of four lipid traits in 30,138 ancestrally diverse samples from 14 studies of the Trans Omics for Precision Medicine (TOPMed) Program, we show that MetaSTAAR performs rare variant meta-analysis at scale and produces results comparable to using pooled data. Additionally, we identified several conditionally significant rare variant associations with lipid traits. We further demonstrate that MetaSTAAR is scalable to biobank-scale cohorts through meta-analysis of TOPMed WGS data and UK Biobank WES data of ~200,000 samples.
    日期: 2022-12-23
    關聯: Nature Genetics. 2022 Dec 23;55:154-164.
    Link to: http://dx.doi.org/10.1038/s41588-022-01225-6
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1061-4036&DestApp=IC2JCR
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85144673676
    顯示於類別:[鍾仁華] 期刊論文
    [熊昭] 期刊論文

    文件中的檔案:

    檔案 描述 大小格式瀏覽次數
    SCP85144673676.pdf5730KbAdobe PDF124檢視/開啟


    在NHRI中所有的資料項目都受到原著作權保護.

    TAIR相關文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回饋