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De novo diploid genome assembly and haplotype sequence reconstruction

机译:从头二倍体基因组装配和单倍型序列重建

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.
机译:示例性实施方式提供了用于二倍体基因组组装和单倍型序列重建的方法和系统。示例性实施例的方面包括从两种单倍型的读取生成融合的装配图,该融合的装配图包括所识别的主要重叠群和相关的重叠群。使用分阶段读取和分阶段读取的单元型感知重叠生成单元型特定的装配图;合并融合后的装配图和单元型特有的装配图,以生成合并后的装配单倍型图;从合并后的装配单倍图中去除交叉相位边,以生成最终的单倍型分解装配图;并从最终单倍型解析的装配图中重建单倍型特异性重叠群,从而产生单倍型特异性重叠群。

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