國家衛生研究院 NHRI:Item 3990099045/15129
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12145/12927 (94%)
造訪人次 : 916375      線上人數 : 1422
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/3990099045/15129


    題名: Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
    作者: Wainschtein, P;Jain, D;Zheng, Z;Aslibekyan, S;Becker, D;Bi, W;Brody, J;Carlson, JC;Correa, A;Du, MM;Fernandez-Rhodes, L;Ferrier, KR;Graff, M;Guo, X;He, J;Heard-Costa, NL;Highland, HM;Hirschhorn, JN;Howard-Claudio, CM;Isasi, CR;Jackson, R;Jiang, J;Joehanes, R;Justice, AE;Kalyani, RR;Kardia, S;Lange, E;LeBoff, M;Lee, S;Li, X;Li, Z;Lim, E;Lin, D;Lin, X;Liu, S;Lu, Y;Manson, JA;Martin, L;McHugh, C;Mikulla, J;Musani, SK;Ng, M;Nickerson, D;Palmer, N;Perry, J;Peters, U;Preuss, M;Qi, Q;Raffield, L;Rasmussen-Torvik, L;Reiner, A;Russell, EM;Sitlani, C;Smith, J;Spracklen, CN;Wang, T;Wang, Z;Wessel, J;Xu, H;Yaser, M;Yoneyama, S;Young, KA;Zhang, J;Zhang, X;Zhou, H;Zhu, X;Zoellner, S;Abe, N;Abecasis, G;Aguet, F;Almasy, L;Alonso, A;Ament, S;Anderson, P;Anugu, P;Applebaum-Bowden, D;Ardlie, K;Arking, D;Ashley-Koch, A;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, L;Beer, R;Beitelshees, A;Benjamin, E;Benos, T;Bezerra, M;Bielak, L;Bis, J;Blackwell, T, .;et al.
    貢獻者: Institute of Population Health Sciences
    摘要: Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error 0.10) for height and 0.30 (standard error 0.10) for body mass index. Low minor allele frequency variants in low linkage disequilibrium (LD) with neighboring variants were enriched for heritability, to a greater extent for protein-altering variants, consistent with negative selection. Our results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease.
    日期: 2022-03-07
    關聯: Nature Genetics. 2022 Mar 07;54(3):263-273.
    Link to: http://dx.doi.org/10.1038/s41588-021-00997-7
    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=85126125467
    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 大小格式瀏覽次數
    SCP85126125467.pdf2704KbAdobe PDF107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