Invention Grant
- Patent Title: De novo diploid genome assembly and haplotype sequence reconstruction
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Application No.: US15162315Application Date: 2016-05-23
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Publication No.: US10783984B2Publication Date: 2020-09-22
- Inventor: Chen-Shan Chin , Paul Peluso , David Rank
- Applicant: Pacific Biosciences of California, Inc.
- Applicant Address: US CA Menlo Park
- Assignee: Pacific Biosciences of California, Inc.
- Current Assignee: Pacific Biosciences of California, Inc.
- Current Assignee Address: US CA Menlo Park
- Agency: Morgan, Lewis & Bockius LLP
- Main IPC: G16B30/00
- IPC: G16B30/00 ; G16B20/00 ; G16B30/20

Abstract:
Exemplary embodiments provide methods and systems for diploid genome assembly and haplotype sequence reconstruction. Aspects of the exemplary embodiment include generating a fused assembly graph from reads of both haplotypes, the fused assembly graph including identified primary contigs and associated contigs; generating haplotype-specific assembly graphs using phased reads and haplotype aware overlapping of the phased reads; merging the fused assembly graph and haplotype-specific assembly graphs to generate a merged assembly haplotype graph; removing cross-phasing edges from the merged assembly haplotype graph to generate a final haplotype-resolved assembly graph; and reconstructing haplotype-specific contigs from the final haplotype-resolved assembly graph resulting in haplotype-specific contigs.
Public/Granted literature
- US20160350478A1 DE NOVO DIPLOID GENOME ASSEMBLY AND HAPLOTYPE SEQUENCE RECONSTRUCTION Public/Granted day:2016-12-01
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