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VARIANT ANNOTATION, ANALYSIS AND SELECTION TOOL 发明申请

2023-04-26 1960 1202K 0

专利信息

申请日期 2025-06-27 申请号 WOUS11051017
公开(公告)号 WO2012034030A1 公开(公告)日 2012-03-15
公开国别 WO 申请人省市代码 全国
申请人 OMICIA INC; YANDELL Mark; REESE Martin; HUFF Chad; HU Hao; MOORE Marvin
简介 Disclosed are methods for detecting and/or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.


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