Open access
Jan 2026
Novel Strategy for Structural Variant Genotyping by Short‐Read Genomic Sequencing From Restriction‐Circles: Experimental and Bioinformatics Proof‐of‐Concept
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...
Martín Abelleyro, P. Yankilevich, B. Ziegler et al.
· Human Mutation · 0 citations