Publication

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

Damariz Gonzalez, Gabriel Cabas, Juan Francisco Miquel, Carol Moraga, Francisca Salas, Alex Di Genova

January 2026 bioRxiv
Abstract

Study summary

RFhap is a reproducible workflow for haplotype-resolved de novo assembly of human genomes using parental short reads and child long reads. The method assigns long reads to parental haplotypes and evaluates downstream assemblies with haplotype-aware metrics, improving the resolution of complex human genomic variation.