Nature

Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data

Human genome variations include single nucleotide variations (SNVs), small insertions and deletions (indels), and structural variants (SVs). SNVs and small indels are defined as alterations of the ...
Nature

Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data

Structural variants (SVs) are one of the significant types of DNA mutations and are typically defined as larger-than-50-bp genomic alterations that include insertions, deletions, duplications, ...