Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

BMC genomics - 23 Apr 2022

Duan Xiaoke, Pan Mingpei, Fan Shaohua

Abstract excerpt

BACKGROUND: Structural variants (SVs) play a crucial role in gene regulation, trait association, and disease in humans. SV genotyping has been extensively applied in genomics research and clinical diagnosis. Although a growing number of SV genotyping methods for long reads have been developed, a comprehensive performance assessment of these methods has yet to be done. RESULTS: Based on one simulated and three...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomic Structural Variation
Share to Genomics
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotyping Techniques

Share to High-Throughput Nucleotide Sequencing

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 35461238
DOI: 10.1186/s12864-022-08548-y
PMCID: PMC9034514

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.PMID 35461238Read ↗

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

SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes.Semantic proximity Read ↗

SVJedi: Genotyping structural variations with long readsSemantic proximity Read ↗

SVJedi: genotyping structural variations with long reads.Semantic proximity Read ↗

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

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

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 ↗

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

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

Comparison and benchmark of long-read based structural variant detection strategiesSemantic proximity Read ↗

Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive ConditionsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.