Merging, annotation, validation, and illustration (MAVIS) of structural variants from long-read genome sequencing
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Structural variants (SVs) are a class of DNA modifications characterized by large scale (>50 nucleotide) changes.
SVs are known to have disproportionately large role relative to their abundance in the biology of rare diseases and cancer.
SVs are classified as insertions, deletions, duplications, translocations, and inversions.
Nanopore sequencing is long read (LR), amplification-free, pore-based sequencing technique.
Whole genome DNA sequencing using Nanopore sequencing can reduce mapping ambiguity and resolves complex SVs of repetitive regions.
Merging, Annotation, Validation, and Illustration (MAVIS) has been previously developed for short reads, but LR sequencing presents its unique challenges such as lower base calling quality.