Article

A benchmark of structural variation detection by long reads through a realistic simulated model

2020-12-27

Abstract excerpt

<h4>ABSTRACT</h4> Despite the rapid evolution of new sequencing technologies, structural variation detection remains poorly ascertained. The high discrepancy between the results of structural variant analysis programs makes it difficult to assess their performance on real datasets. Accurate simulations of structural variation distributions and sequencing data of the human genome are crucial for the development an...

Topics

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

Identifiers and source

Literature Corpus work: 68655246-01bb-5c27-9ac4-ec319966ed62
DOI: 10.1101/2020.12.25.424397

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A benchmark of structural variation detection by long reads through a realistic simulated modelDOI 10.1101/2020.12.25.424397Read

NextSV: a meta-caller for structural variants from low-coverage long-read sequencing dataSemantic proximity Read

Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.Semantic proximity Read

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

Correspondence on NanoVar's performance outlined by Jiang T. et al. in "Long-read sequencing settings for efficient structural variation detection based on comprehensive evaluation".Semantic proximity Read

NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.Semantic proximity Read

Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data.Semantic proximity Read

BVSim: A benchmarking variation simulator mimicking human variation spectrum.Semantic proximity Read

Evaluation of computational genotyping of Structural Variations for clinical diagnosesSemantic proximity Read

SV <sup>2</sup> : Accurate Structural Variation Genotyping and <i>De Novo</i> Mutation Detection from Whole GenomesSemantic proximity Read

PerSVade: Personalized Structural Variation detection in your species of interestSemantic proximity Read

Accurate detection of pathogenic structural variants guided by multi-platform comparisonSemantic proximity Read

Pysim-sv: a package for simulating structural variation data with GC-biases.Semantic proximity Read