Article

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

2019-05-10

Abstract excerpt

The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 393749d9-645c-5748-aa5c-6985bc02dffe
DOI: 10.1101/635037

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long readsDOI 10.1101/635037Read

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.Semantic proximity Read

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long readsSemantic proximity Read

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads.Semantic proximity Read

Single haplotype assembly of the human genome from a hydatidiform mole.Semantic proximity Read

Semi-automated assembly of high-quality diploid human reference genomes.Semantic proximity Read

Automated assembly of high-quality diploid human reference genomesSemantic proximity Read

Single haplotype assembly of the human genome from a hydatidiform moleSemantic proximity Read

Telomere-to-telomere assembly of a complete human X chromosomeSemantic proximity Read

Gaps and complex structurally variant loci in phased genome assembliesSemantic proximity Read

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblySemantic proximity Read

Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomesSemantic proximity Read

The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere AssembliesSemantic proximity Read