Invention Grant
- Patent Title: Automatic processing of electronic files to identify genetic variants
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Application No.: US16952667Application Date: 2020-11-19
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Publication No.: US12014281B2Publication Date: 2024-06-18
- Inventor: Elinor Dehan , Bhuvan Sharma , Claudia S. Huettner , Kirk Alan Beaty , Shang Xue , Himanshu Sharma
- Applicant: Merative US L.P.
- Applicant Address: US MI Ann Arbor
- Assignee: Merative US L.P.
- Current Assignee: Merative US L.P.
- Current Assignee Address: US MI Ann Arbor
- Agent Stephen J. Walder, Jr.
- Main IPC: G06N3/126
- IPC: G06N3/126 ; G16H10/20 ; G16H10/40 ; G16H15/00 ; G16H50/70 ; G16H70/60

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.
Public/Granted literature
- US20220156597A1 Automatic Processing of Electronic Files to Identify Genetic Variants Public/Granted day:2022-05-19
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