Invention Application
- Patent Title: SYSTEMS AND METHODS FOR IDENTIFYING EXON JUNCTIONS FROM SINGLE READS
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Application No.: US17699439Application Date: 2022-03-21
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Publication No.: US20220284986A1Publication Date: 2022-09-08
- Inventor: Paolo Vatta , Onur Sakarya , Heinz Breu , Liviu Popescu , Asim Siddiqui , Fiona Hyland
- Applicant: Life Technologies Corporation
- Applicant Address: US CA Carlsbad
- Assignee: Life Technologies Corporation
- Current Assignee: Life Technologies Corporation
- Current Assignee Address: US CA Carlsbad
- Main IPC: G16B30/10
- IPC: G16B30/10 ; G16B30/00

Abstract:
Identification of exon junctions includes obtaining a first read sequence based on a detected plurality of signals of a first sequence. A list of exon prefix and suffix sequences are generated by identifying exons of the human genome with a prefix sequence mapping to a suffix sequence of the first read sequence and by identifying exons with a suffix sequence mapping to a prefix sequence of the first read sequence. A pair of exon sequences is selected, with a first exon sequence being one of the exon suffix sequences and a second exon sequence being one of the exon prefix sequences. Summing a number of sequence elements of the first exon sequence that overlap the prefix of the first read sequence, a number of sequence elements of the second exon sequence that overlap the suffix of the first read sequence, and a constant is used to identify a fusion junction.
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