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GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C

Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers require parental data or reference genomes and often fail to provide chromosome-level results. We present GreenHill, a novel scaffolding and phasing tool t...

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Detalles Bibliográficos
Autores principales: Ouchi, Shun, Kajitani, Rei, Itoh, Takehiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334647/
https://www.ncbi.nlm.nih.gov/pubmed/37434204
http://dx.doi.org/10.1186/s13059-023-03006-8
Descripción
Sumario:Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers require parental data or reference genomes and often fail to provide chromosome-level results. We present GreenHill, a novel scaffolding and phasing tool that considers various assemblers’ contigs as input to reconstruct chromosome-level haplotypes using Hi-C without parental or reference data. Its unique functions include new error correction based on Hi-C contacts and the simultaneous use of Hi-C and long reads. Benchmarks reveal that GreenHill outperforms other approaches in contiguity and phasing accuracy, and the majority of chromosome arms are entirely phased. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-03006-8.