%0 Journal Article
%T Phasing Diploid Genome Assembly Graphs with Single-Cell Strand Sequencing.
%A Henglin M
%A Ghareghani M
%A Harvey W
%A Porubsky D
%A Koren S
%A Eichler EE
%A Ebert P
%A Marschall T
%J bioRxiv
%V 0
%N 0
%D 2024 Jun 20
%M 38529499
暂无%R 10.1101/2024.02.15.580432
%X Haplotype information is crucial for biomedical and population genetics research. However, current strategies to produce de-novo haplotype-resolved assemblies often require either difficult-to-acquire parental data or an intermediate haplotype-collapsed assembly. Here, we present Graphasing, a workflow which synthesizes the global phase signal of Strand-seq with assembly graph topology to produce chromosome-scale de-novo haplotypes for diploid genomes. Graphasing readily integrates with any assembly workflow that both outputs an assembly graph and has a haplotype assembly mode. Graphasing performs comparably to trio-phasing in contiguity, phasing accuracy, and assembly quality, outperforms Hi-C in phasing accuracy, and generates human assemblies with over 18 chromosome-spanning haplotypes.