Invention Grant
- Patent Title: Methods for detection of fusions using compressed molecular tagged nucleic acid
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Application No.: US16136463Application Date: 2018-09-20
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Publication No.: US11894105B2Publication Date: 2024-02-06
- Inventor: Rajesh Gottimukkala , Cheng-Zong Bai , Dumitru Brinza , Jeoffrey Schageman , Varun Bagai
- Applicant: LIFE TECHNOLOGIES CORPORATION
- Applicant Address: US CA Carlsbad
- Assignee: Life Technologies Corporation
- Current Assignee: Life Technologies Corporation
- Current Assignee Address: US CA Carlsbad
- Agent Carolyn Koenig
- Main IPC: G16B30/00
- IPC: G16B30/00 ; C12Q1/6853 ; G16B30/10 ; G16B20/20 ; G16B50/50

Abstract:
A method for compressing nucleic acid sequence data wherein each sequence read is associated with a molecular tag sequence, wherein a portion of the sequence reads alignments correspond to sequence reads mapped to a targeted fusion reference sequence includes determining a consensus sequence read for each family of sequence reads based on flow space signal measurements corresponding to the family of sequence reads, determining a consensus sequence alignment for each family of sequence reads, wherein a portion of the consensus sequence alignments correspond to the consensus sequence reads aligned with the targeted fusion reference sequence, generating a compressed data structure comprising consensus compressed data, the consensus compressed data including the consensus sequence read and the consensus sequence alignment for each family, and detecting a fusion using the consensus sequence reads and the consensus sequence alignments from the compressed data structure.
Public/Granted literature
- US20190087539A1 METHODS FOR DETECTION OF FUSIONS USING COMPRESSED MOLECULAR TAGGED NUCLEIC ACID SEQUENCE DATA Public/Granted day:2019-03-21
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