发明名称 |
DE NOVO DIPLOID GENOME ASSEMBLY AND HAPLOTYPE SEQUENCE RECONSTRUCTION |
摘要 |
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. |
申请公布号 |
WO2016191380(A1) |
申请公布日期 |
2016.12.01 |
申请号 |
WO2016US33798 |
申请日期 |
2016.05.23 |
申请人 |
PACIFIC BIOSCIENCES OF CALIFORNIA, INC. |
发明人 |
CHIN, Chen-shan;PELUSO, Paul;RANK, David |
分类号 |
G06F19/22;C12P19/34;G06F19/18 |
主分类号 |
G06F19/22 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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