公开(公告)号：US20220238180A1

公开(公告)日：2022-07-28

申请号：US17520037

申请日：2021-11-05

申请人： Fabric Genomics, Inc. ,  University of Utah

发明人： Mark Yandell ,  Marc Singleton ,  Martin Reese ,  Karen Eilbeck

IPC分类号： G16B20/00 ,  G16B40/00 ,  G16B30/00 ,  G16B45/00 ,  G16B50/00 ,  G06F40/169 ,  G16B20/20 ,  G16B20/30 ,  G16B20/40 ,  G16B50/10 ,  G16B30/10 ,  G06F7/02

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.