VACmap: An Accurate Long-Read Aligner for Unraveling Complex Genomic Rearrangements

Abstract excerpt

<title>Abstract</title> <p>Inversions, duplications, and other critical medically challenging variations are often ignored by routine genetic analyses. This is due to the complexity of these alleles but also because of the inability to accurately align them with state-of-the-art methods. We introduce VACmap, a novel non-linear long-read mapping method designed to improve detection of these difficult genomic regio...

Topics

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• Alleles
• Chromosome Breakpoints
• Genome, Human
• Genomic Structural Variation
• Genomics
• Long Interspersed Nucleotide Elements
• Minisatellite Repeats
• Retroelements

Identifiers and source

Literature Corpus work

a2d7b592-1856-580b-9cc0-8b7527352ddb

DOI

10.21203/rs.3.rs-5088253/v1