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公开(公告)号:US20130080068A1
公开(公告)日:2013-03-28
申请号:US13445925
申请日:2012-04-13
申请人: Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人: Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号: G06F19/12
摘要: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译: 本发明的一个实施方案是根据疾病表型,基因和变异水平信息来优先考虑与遗传的孟德尔(单基因)疾病综合征相关的变体的方法。
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公开(公告)号:US09443056B2
公开(公告)日:2016-09-13
申请号:US13445925
申请日:2012-04-13
申请人: Frederick Dewey , Euan A. Ashley , Jake Byrnes , Carlos Daniel Bustamante , Atul J. Butte , Rong Chen
发明人: Frederick Dewey , Euan A. Ashley , Jake Byrnes , Carlos Daniel Bustamante , Atul J. Butte , Rong Chen
摘要: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
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公开(公告)号:US20150370959A9
公开(公告)日:2015-12-24
申请号:US13445925
申请日:2012-04-13
申请人: Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人: Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号: G06F19/12
摘要: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译: 本发明的一个实施方案是根据疾病表型,基因和变异水平信息来优先考虑与遗传的孟德尔(“单基因”)疾病综合征有关的变体的方法。
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