Invention Grant
- Patent Title: Validation methods and systems for sequence variant calls
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Application No.: US16206552Application Date: 2018-11-30
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Publication No.: US12040047B2Publication Date: 2024-07-16
- Inventor: Tingting Jiang , Chen Zhao
- Applicant: ILLUMINA, INC.
- Applicant Address: US CA San Diego
- Assignee: ILLUMINA, INC.
- Current Assignee: ILLUMINA, INC.
- Current Assignee Address: US CA San Diego
- Agency: Fletcher Yoder P.C.
- Main IPC: G16B20/20
- IPC: G16B20/20 ; G16B30/00 ; G16B40/00
Abstract:
Presented herein are techniques for identifying and/or validating sequence variants in genomic sequence data. The techniques include generating an error rate reflective of sequence errors present in the genomic sequence data. The error rate may be used to validate potential sequence variants. The error rate may be based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.
Public/Granted literature
- US20190206510A1 VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS Public/Granted day:2019-07-04
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