发明名称 |
METHODS AND SYSTEMS FOR GENOME ANALYSIS |
摘要 |
The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis. |
申请公布号 |
EP3095054(A1) |
申请公布日期 |
2016.11.23 |
申请号 |
EP20150737458 |
申请日期 |
2015.01.14 |
申请人 |
OMICIA, INC.;UNIVERSITY OF UTAH |
发明人 |
SINGLETON, MARC;REESE, MARTIN;EILBECK, KAREN;YANDELL, MARK |
分类号 |
G06F19/18;G06F19/28 |
主分类号 |
G06F19/18 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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