ArticleHuman mutation2026
Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
Structural variants (SVs) comprise copy-number variants (e.g., deletions and duplications) and copy-neutral SV (e.g., perfect inversions). Short-read high-throughput DNA-sequencing is the established technology for small-variant calling in clinical genomics, whereas Oxford nanopore or PacBio long-read NGS technologies improve SV identification but remain challenging to implement in clinical settings. We developed and validated a novel experimental protocol and bioinformatics pipeline for SV genotyping from short-read whole-genome sequencing (WGS) of restriction-circles of DNA. The experimental protocol includes
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