Article

HySA: A Hybrid Structural variant Assembly approach using next generation and single-molecule sequencing technologies

2016-08-16

Abstract excerpt

Achieving complete, accurate and cost-effective assembly of human genome is of great importance for realizing the promises of precision medicine. The abundance of repeats and genetic variations in human genome and the limitations of existing sequencing technologies call for the development of novel assembly methods that could leverage the complementary strengths of multiple technologies. We propose a Hybrid Struct...

Topics

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

Identifiers and source

Literature Corpus work: 2feb06cb-22cd-5b01-9aac-1cb3e778a408
DOI: 10.1101/069815

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

HySA: A Hybrid Structural variant Assembly approach using next generation and single-molecule sequencing technologiesDOI 10.1101/069815Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing.Semantic proximity Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencingSemantic proximity Read

De novo assembly and phasing of a Korean human genome.Semantic proximity Read

VISTA: an integrated framework for structural variant discovery.Semantic proximity Read

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

Accurate chromosome-scale haplotype-resolved assembly of human genomesSemantic proximity Read

NovoGraph: Human genome graph construction from multiple long-read de novo assembliesSemantic proximity Read

Improved structural variant discovery in hard-to-call regions using sample-specific string detection from accurate long readsSemantic proximity Read

SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencingSemantic proximity Read

Chromosome-scale, haplotype-resolved assembly of human genomes.Semantic proximity Read

Highly-accurate long-read sequencing improves variant detection and assembly of a human genomeSemantic proximity Read

Assembly and diploid architecture of an individual human genome via single-molecule technologies.Semantic proximity Read