Article

Accurate haplotype-resolved de novo assembly of human genomes with RFhap

2026-01-30

Abstract excerpt

Haplotype-resolved de novo assemblies enable genome-wide separation of maternal and paternal variation, improving the interpretation of complex variants relevant to human disease. Trio-aware assemblers such as Hifiasm-Trio leverage parental short reads by deriving parent-specific k-mers to guide phasing within the long-read assembly graph; however, fixed k-mer length and heuristics cannot be optimal in the presenc...

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Literature Corpus work: fec92bfe-c542-5690-9486-a82e9a5e2d60
DOI: 10.64898/2026.01.28.702238

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