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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