ArticleGenome biology2018
FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
- Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.Science China. Life sciences · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Bayesian Integrative Detection of Structural Variations With False Discovery Rate Control.Biometrical journal. Biometrische Zeitschrift · 2026Article
- SoMaCX: a complex generative genome modeling framework.BMC genomics · 2025Article
- Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.NPJ genomic medicine · 2025Article
- SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data.BMC bioinformatics · 2025Article
- Systematic benchmarking of tools for structural variation detection using short- and long-read sequencing data in pigs.iScience · 2025Article
- Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.Human genomics · 2024Review
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Mapping recurrent mosaic copy number variation in human neurons.Nature communications · 2024Article
- VariantDetective: an accurate all-in-one pipeline for detecting consensus bacterial SNPs and SVs.Bioinformatics (Oxford, England) · 2024Article
- Pangenome graphs improve the analysis of structural variants in rare genetic diseases.Nature communications · 2024Article
- A collection of read depth profiles at structural variant breakpoints.Scientific data · 2023Article
- ConsensuSV-from the whole-genome sequencing data to the complete variant list.Bioinformatics (Oxford, England) · 2022Article
- JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level.Genomics, proteomics & bioinformatics · 2022Article
- A comprehensive benchmarking of WGS-based deletion structural variant callers.Briefings in bioinformatics · 2022Article
- Dysgu: efficient structural variant calling using short or long reads.Nucleic acids research · 2022Article
- GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.Nucleic acids research · 2022Article
- Towards accurate and reliable resolution of structural variants for clinical diagnosis.Genome biology · 2022Review
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Comprehensive and accurate identification of structural variations (SVs) from next generation sequencing data remains a major challenge. We develop FusorSV, which uses a data mining approach to assess performance and merge callsets from an ensemble of SV-calling algorithms. It includes a fusion model built using analysis of 27 deep-coverage human genomes from the 1000 Genomes Project. We identify 843 novel SV calls that were not reported by the 1000 Genomes Project for these 27 samples. Experimental validation of a subset of these calls yields a validation rate of 86.7%. FusorSV is available at https://github.com/TheJacksonLaboratory/SVE .
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Registered trials
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.