Discovery of tandem and interspersed segmental duplications using high throughput sequencing

Abstract excerpt

<h4>Motivation</h4> Several algorithms have been developed that use high throughput sequencing technology to characterize structural variations. Most of the existing approaches focus on detecting relatively simple types of SVs such as insertions, deletions, and short inversions. In fact, complex SVs are of crucial importance and several have been associated with genomic disorders. To better understand the contrib...

Topics

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• Chromosome Duplication
• Chromosome Inversion
• Databases, Nucleic Acid
• Genomic Structural Variation
• Genotyping Techniques
• High-Throughput Nucleotide Sequencing
• Sequence Deletion
• Software

Identifiers and source

Literature Corpus work

468d7a9f-1157-5fdf-a0cc-d49a2f586c83

DOI

10.1101/393694