Hasil Pencarian - Peter D Stenson

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  1. 1
    X-CAP improves pathogenicity prediction of stopgain variants

    X-CAP improves pathogenicity prediction of stopgain variants oleh Ruchir Rastogi, Peter D. Stenson, David N. Cooper, Gill Bejerano

    Diterbitkan 2022-07-01
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  2. 2
    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity

    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity oleh Meltem Ece Kars, Yiming Wu, Peter D. Stenson, David N. Cooper, Johan Burisch, Inga Peter, Yuval Itan

    Diterbitkan 2024-05-01
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  3. 3
    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set oleh David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan

    Diterbitkan 2023-11-01
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  4. 4
    A probabilistic model to predict clinical phenotypic traits from genome sequencing.

    A probabilistic model to predict clinical phenotypic traits from genome sequencing. oleh Yun-Ching Chen, Christopher Douville, Cheng Wang, Noushin Niknafs, Grace Yeo, Violeta Beleva-Guthrie, Hannah Carter, Peter D Stenson, David N Cooper, Biao Li, Sean Mooney, Rachel Karchin

    Diterbitkan 2014-09-01
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  5. 5
    Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkResearch in context

    Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkResearch in context oleh Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Xuehao Xiu, Cong Fan, Mengling Qi, Meng Meng, Junping Ye, Matthew Mort, Peter D. Stenson, David N. Cooper, Huiying Zhao

    Diterbitkan 2024-09-01
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  6. 6
    A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

    A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. oleh Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Steven M Lipkin, Marcus B Smolka, Haiyuan Yu

    Diterbitkan 2014-12-01
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  7. 7
    Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

    Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations oleh Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

    Diterbitkan 2019-09-01
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  8. 8
    CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

    CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency oleh David Requena, Patrick Maffucci, Patrick Maffucci, Patrick Maffucci, Benedetta Bigio, Lei Shang, Avinash Abhyankar, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Peter D. Stenson, David N. Cooper, Charlotte Cunningham-Rundles, Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Laurent Abel, Laurent Abel, Laurent Abel, Yuval Itan, Yuval Itan

    Diterbitkan 2018-06-01
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  9. 9
    Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

    Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients oleh Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Cigdem Sevim Bayrak, Peng Zhang, Aayushee Jain, Patrick Maffucci, Ksenija Sabic, Tielman Van Vleck, Girish Nadkarni, Lee A. Denson, Harry Ostrer, Adam P. Levine, Elena R. Schiff, Anthony W. Segal, Subra Kugathasan, Peter D. Stenson, David N. Cooper, L. Philip Schumm, Scott Snapper, Mark J. Daly, Talin Haritunians, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Steven R. Brant, Dermot P. B. McGovern, Judy H. Cho, Yuval Itan

    Diterbitkan 2023-04-01
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