Haplotype-resolved assembly of diploid genomes without parental data

Routine haplotype-resolved genome assembly from single samples remains an unresolved problem. Here we describe an algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the sequencing of parents. Applied to human and other verte...

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Bibliographic Details
Published in:Nature biotechnology 2022-09, Vol.40 (9), p.1332-1335
Main Authors: Cheng, Haoyu, Jarvis, Erich D., Fedrigo, Olivier, Koepfli, Klaus-Peter, Urban, Lara, Gemmell, Neil J., Li, Heng
Format: Article
Language:English
Subjects:
631/114/2785/2302
631/114/794
Agriculture
Algorithms
Assemblies
Assembly
Bioinformatics
Biomedical and Life Sciences
Biomedical Engineering/Biotechnology
Biomedicine
Biotechnology
Brief Communication
Chromatin
Chromosomes
Diploids
Diploidy
Genome
Genomes
Haplotypes
Haplotypes - genetics
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Parents
Sequence Analysis, DNA
Vertebrates
Wildlife conservation
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