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公开(公告)号:US12014281B2
公开(公告)日:2024-06-18
申请号:US16952667
申请日:2020-11-19
Applicant: Merative US L.P.
Inventor: Elinor Dehan , Bhuvan Sharma , Claudia S. Huettner , Kirk Alan Beaty , Shang Xue , Himanshu Sharma
Abstract: A mechanism is provided for processing electronic files to identify genetic variants of a gene. Evidence of one or more genetic variants of the gene and corresponding information is extracted from a corpus of information. Each genetic variant of the one or more genetic variants is classified based on whether the genetic variant is identified as being pathogenic. Genetic variant annotation is then performed to generate a summary.