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    • 8. 发明申请
    • DE NOVO DIPLOID GENOME ASSEMBLY AND HAPLOTYPE SEQUENCE RECONSTRUCTION
    • DE NOVO DIPLOID基因组大会和HAPLOTYPE序列重建
    • WO2016191380A1
    • 2016-12-01
    • PCT/US2016/033798
    • 2016-05-23
    • PACIFIC BIOSCIENCES OF CALIFORNIA, INC.
    • CHIN, Chen-shanPELUSO, PaulRANK, David
    • G06F19/22G06F19/18C12P19/34
    • G06F19/22G06F19/18
    • 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.
    • 示例性实施方案提供了用于二倍体基因组装配和单倍型序列重建的方法和系统。 示例性实施方案的方面包括从两个单倍型的读取产生融合组合图,所述融合组合图包括鉴定的原始重叠群和相关联的重叠群; 使用相位读取和相位读取的单倍型感知重叠来产生单倍型特异性组装图; 合并融合组合图和单倍型特异性组装图以生成合并的组合单倍型图; 从合并的组合单倍型图中去除交叉相位边缘以产生最终的单倍型分解组装图; 并从最终的单元型分解的组装图中重建单倍型特异性重叠群,得到单倍型特异性重叠群。