Article

Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

2019-01-13

Abstract excerpt

The major DNA sequencing technologies in use today produce either highly-accurate short reads or noisy long reads. We developed a protocol based on single-molecule, circular consensus sequencing (CCS) to generate highly-accurate (99.8%) long reads averaging 13.5 kb and applied it to sequence the well-characterized human HG002/NA24385. We optimized existing tools to comprehensively detect variants, achieving precis...

Topics

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

Identifiers and source

Literature Corpus work: ad60e71b-5c84-5ab7-803a-480048c9c8cb
DOI: 10.1101/519025

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Highly-accurate long-read sequencing improves variant detection and assembly of a human genomeDOI 10.1101/519025Read

Finding an optimal sequencing strategy to detect short and long genetic variants in a human genomeSemantic proximity Read

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.Semantic proximity Read

Longshot: accurate variant calling in diploid genomes using single-molecule long read sequencingSemantic proximity Read

Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.Semantic proximity Read

Accelerated, Accurate, Hybrid Short and Long Reads Alignment and Variant CallingSemantic proximity Read

Accurate detection of complex structural variations using single molecule sequencingSemantic proximity Read

Benchmarking challenging small variants with linked and long readsSemantic proximity Read

The Platinum Pedigree: A long-read benchmark for genetic variantsSemantic proximity Read

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

Expectations and blind spots for structural variation detection from short-read alignment and long-read assemblySemantic proximity Read

Finding easy regions for short-read variant calling from pangenome data.Semantic proximity Read

Blackbird: structural variant detection using synthetic and low-coverage long-readsSemantic proximity Read