Large complex structural rearrangements in human genomes harbor cryptic structures

Abstract excerpt

Structural variation is a major contributor to human diversity, adaptation, and disease. Simple structural variant (SV) types include deletions, insertions, duplications, inversions, and translocations, and SVs account for most of the variable bases between genomes. Complex structural variants (CSVs) that consist of one or more simple events in cis appear more frequently in diseases and cancers where DNA repair,...

Topics

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• Chromosome Aberrations
• Chromosome Breakpoints
• Gene Rearrangement
• Genome, Human
• Germ-Line Mutation
• High-Throughput Nucleotide Sequencing
• Translocation, Genetic
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

dadd7138-e283-522f-91c6-5ef32cace3cd

DOI

10.1101/2024.12.19.629504