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

Abstract excerpt

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, inversions, and translocations. These modifications can profoundly impact the phenotypic characteristics and contribute to disorders like cancer, response to treatment, and infections. Four long-read aligners and five SV...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Benchmarking
• Share to Genomics
• Share to Mutation