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Structural variant calling: the long and the short of it.
Journal article

Structural variant calling: the long and the short of it.

  • Mahmoud M Human Genome Sequencing Center, Baylor College of Medicine, Houston, USA.
  • Gobet N Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Cruz-Dávalos DI Swiss Institute of Bioinformatics, Lausanne, Switzerland.
  • Mounier N Swiss Institute of Bioinformatics, Lausanne, Switzerland.
  • Dessimoz C Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. Christophe.Dessimoz@unil.ch.
  • Sedlazeck FJ Human Genome Sequencing Center, Baylor College of Medicine, Houston, USA. fritz.sedlazeck@bcm.edu.
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  • 2019-11-22
Published in:
  • Genome biology. - 2019
De novo assembly
Gene fusion
Hybrid
Long-read
Mapping
RNA-Seq
Short-read
Structural variant (SV) detection
Animals
Genomic Structural Variation
Genomics
Humans
English Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational methods for each approach.
Language
  • English
Open access status
gold
Identifiers
Persistent URL
https://sonar.ch/global/documents/246773
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