ArticleBioinformatics (Oxford, England)2022
ConsensuSV-from the whole-genome sequencing data to the complete variant list.
Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.Human mutation · 2026Article
- SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data.BMC bioinformatics · 2025Article
- ConsensuSV-ONT - A modern method for accurate structural variant calling.Scientific reports · 2025Article
- HiCDiffusion - diffusion-enhanced, transformer-based prediction of chromatin interactions from DNA sequences.BMC genomics · 2024Article
- Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.International journal of molecular sciences · 2024Article
- VariantDetective: an accurate all-in-one pipeline for detecting consensus bacterial SNPs and SVs.Bioinformatics (Oxford, England) · 2024Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
summaryThe detection of the structural variants (SVs) using Illumina sequencing of human DNA is not an easy task. Multiple approaches have been proposed; however, all the methods have their limitations. In this article, we present ConsensuSV pipeline that aids the research in complex variant detection. By using consensus meta-approach, eight independent SV callers are being used to identify a uniform set of high-quality SVs. The pipeline works using raw sequencing data and performs all the necessary steps automatically, significantly reducing the researchers' time required for processing the data. The output files contain SVs, single nucleotide polymorphisms and Indels. The pipeline uses luigi framework, allowing the software to be run efficiently and parallelly using the high-performance computing infrastructure. We strongly believe that the software is useful to the scientific community interested in the germline variant detection. AVAILABILITY AND IMPLEMENTATION: https://github.com/SFGLab/ConsensuSV-pipeline. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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Registered trials
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