ReviewFrontiers in bioengineering and biotechnology2015
Detection of Genomic Structural Variants from Next-Generation Sequencing Data.
Review in Frontiers in bioengineering and biotechnology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers.
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Who cites it
128 citing papers in PubMed.
- Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.PLoS computational biology · 2026Article
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHG · 2026Article
- Evaluation of acute myeloid leukemia using genomic proximity mapping-based next generation cytogenomics.Haematologica · 2026Article
- Whole-genome resequencing suggests adaptive role of copy number variation regions in Indian cattle.Tropical animal health and production · 2026Article
- Array comparative genomic hybridisation in haematological malignancies: A comprehensive review.African journal of laboratory medicine · 2026Review
- Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing.Frontiers in genetics · 2026Review
- ZIPcnv: accurate and efficient inference of copy number variations from shallow whole-genome sequencing.Bioinformatics (Oxford, England) · 2025Article
- Unlocking growth potential in Wenchang chickens: A 21 K genotyping array for trait-associated structural variations.Poultry science · 2025Article
- The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies.Molecular biology and evolution · 2025Article
- SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data.BMC bioinformatics · 2025Article
- Uncovering minimal pathways in melanoma initiation.Nature communications · 2025Article
- Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.NPJ genomic medicine · 2025Article
- In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?Frontiers in medicine · 2025Article
- The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing.Frontiers in genetics · 2025Article
- Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.NPJ genomic medicine · 2024Article
- Applications of Next-Generation Sequencing Technologies and Statistical Tools in Identifying Pathways and Biomarkers for Heat Tolerance in Livestock.Veterinary sciences · 2024Review
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients.International journal of molecular sciences · 2024Article
- Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.European journal of human genetics : EJHG · 2024Article
- Integrated approach to generate artificial samples with low tumor fraction for somatic variant calling benchmarking.BMC bioinformatics · 2024Article
68 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and cancer development and progression. Dissecting structural variants from next-generation sequencing data presents several challenges and a number of approaches have been proposed in the literature. In this mini review, we describe and summarize the latest tools - and their underlying algorithms - designed for the analysis of whole-genome sequencing, whole-exome sequencing, custom captures, and amplicon sequencing data, pointing out the major advantages/drawbacks. We also report a summary of the most recent applications of third-generation sequencing platforms. This assessment provides a guided indication - with particular emphasis on human genetics and copy number variants - for researchers involved in the investigation of these genomic events.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.