biorxiv.org

Efficient and accurate near telomere-to-telomere haplotype reconstruction of diploid genomes (opens in new tab)

Telomere-to-telomere (T2T) and haplotype-resolved assembly are crucial for understanding eukaryotic genomes. For diploid species, this resolution is critical to uncover allelic variations, inheritance patterns, and functional genomic traits. Current scaffolding methods typically employ either sequence-based or graph-based strategies.Sequence-based approaches rely on proximity signals to yield high contiguity, but underutilize assembly graph information, resulting in more structural errors and...

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