Haplotype-resolved Assembly of Diploid Genomes Without Parental Data

Overview

Journal Nat Biotechnol

Specialty Biotechnology

Date 2022 Mar 25

PMID 35332338

Authors

Haoyu Cheng

Erich D Jarvis

Olivier Fedrigo

Klaus-Peter Koepfli

Lara Urban

Neil J Gemmell

Heng Li

Affiliations

Soon will be listed here.

Abstract

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 vertebrate samples, our algorithm consistently outperforms existing single-sample assembly pipelines and generates assemblies of similar quality to the best pedigree-based assemblies.

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