Improving the Power of Structural Variation Detection by Augmenting the Reference

Abstract excerpt

The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized into three related but distinct categories: as a representative species genome, as a coordinate system for identifying variants, and as an alignment reference for variation detection algorithms. However, the use of this reference sequence as simultaneously a representative species genome and as an alignment reference...

Topics

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• Algorithms
• Base Sequence
• Genome, Human
• Genomic Structural Variation
• Membrane Proteins
• Nerve Tissue Proteins
• Reference Values
• Sequence Alignment

Identifiers and source

Literature Corpus work

cfaf4032-ee10-5a48-a0f8-6997b8f3ff5c

DOI

10.1101/019109