ArticleGenome biology2016
Resolving complex structural genomic rearrangements using a randomized approach.
Article in Genome biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Admixture-driven structural variation diversity and its functional implications.National science review · 2026Article
- GGTyper: genotyping complex structural variants using short-read sequencing data.Bioinformatics (Oxford, England) · 2024Article
- Detection of trait-associated structural variations using short-read sequencing.Cell genomics · 2023Article
- Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.Genomics, proteomics & bioinformatics · 2022Article
- Detection of somatic structural variants from short-read next-generation sequencing data.Briefings in bioinformatics · 2021Review
- Complex Variant Discovery Using Discordant Cluster Normalization.Journal of computational biology : a journal of computational molecular cell biology · 2021Article
- Pacbio Sequencing of PLC/PRF/5 Cell Line and Clearance of HBV Integration Through CRISPR/Cas-9 System.Frontiers in molecular biosciences · 2021Article
- Structural variation in the sequencing era.Nature reviews. Genetics · 2020Review
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- PostSV: A Post-Processing Approach for Filtering Structural Variations.Bioinformatics and biology insights · 2020Article
- Hecaton: reliably detecting copy number variation in plant genomes using short read sequencing data.BMC genomics · 2019Article
- Discovery of tandem and interspersed segmental duplications using high-throughput sequencing.Bioinformatics (Oxford, England) · 2019Article
- TSD: A Computational Tool To Study the Complex Structural Variants Using PacBio Targeted Sequencing Data.G3 (Bethesda, Md.) · 2019Article
- Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.Genome biology and evolution · 2019Article
- Detection and visualization of complex structural variants from long reads.BMC bioinformatics · 2018Article
- Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome medicine · 2018Article
- Genome wide mapping of ETV6 binding sites in pre-B leukemic cells.Scientific reports · 2018Article
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line.Genome research · 2018Article
- CNVs are associated with genomic architecture in a songbird.BMC genomics · 2018Article
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Authors and funding
5 authors.
Funding
Abstract
Complex chromosomal rearrangements are structural genomic alterations involving multiple instances of deletions, duplications, inversions, or translocations that co-occur either on the same chromosome or represent different overlapping events on homologous chromosomes. We present SVelter, an algorithm that identifies regions of the genome suspected to harbor a complex event and then resolves the structure by iteratively rearranging the local genome structure, in a randomized fashion, with each structure scored against characteristics of the observed sequencing data. SVelter is able to accurately reconstruct complex chromosomal rearrangements when compared to well-characterized genomes that have been deeply sequenced with both short and long reads.
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