A human phenotype ontology (HPO)-driven whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease

被引：0
|
作者：
Robinson, P. N. [1 ]
Schubach, M. [1 ]
Jacobsen, J. O. B. [2 ,3 ]
Koehler, S. [1 ]
Zemojtel, T. [1 ]
Spielmann, M. [1 ]
Jaeger, M. [1 ]
Hochheiser, H. [4 ]
Washington, N. L. [5 ]
Haendel, M. A. [6 ]
Mungall, C. J. [5 ]
Lewis, S. E. [5 ]
Groza, T. [7 ]
Valentini, G. [8 ]
Smedley, D. [3 ]
机构：
[1] Charite Univ Med Berlin, Berlin, Germany
[2] Wellcome Trust Sanger Inst, Skarnes Fac Grp, Hinxton CB10 1SA, England
[3] Univ Pittsburgh, Dept Biomed Informat, Pittsburgh, PA 15206 USA
[4] Univ Pittsburgh, Intelligent Syst Program, Pittsburgh, PA 15206 USA
[5] Lawrence Berkeley Natl Lab, Div Environm Genom & Syst Biol, Berkeley, CA 94720 USA
[6] Oregon Hlth & Sci Univ, Dept Med Informat & Clin Epidemiol, Portland, OR 97239 USA
[7] Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia
[8] Univ Milan, Dept Comp Sci, I-20126 Milan, Italy
来源：
NEUROMUSCULAR DISORDERS | 2016年 / 26卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
S08
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页码：S2 / S3
页数：2
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