Structural variation

Definition

Structural variation refers to large scale structural differences in the genomic DNA that are inherited and polymorphic in a species. They are a result of chromosomal rearrangement – deletion, duplication, novel sequence insertion or inversion. If these polymorphisms are cytogenetically visible they are termed heteromorphisms.

Latest Research and Reviews

  • Research | | open

    The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.

    • Mircea Cretu Stancu
    • , Markus J. van Roosmalen
    • , Ivo Renkens
    • , Marleen M. Nieboer
    • , Sjors Middelkamp
    • , Joep de Ligt
    • , Giulia Pregno
    • , Daniela Giachino
    • , Giorgia Mandrile
    • , Jose Espejo Valle-Inclan
    • , Jerome Korzelius
    • , Ewart de Bruijn
    • , Edwin Cuppen
    • , Michael E. Talkowski
    • , Tobias Marschall
    • , Jeroen de Ridder
    •  & Wigard P. Kloosterman
  • Research | | open

    • Adam Ameur
    • , Johan Dahlberg
    • , Pall Olason
    • , Francesco Vezzi
    • , Robert Karlsson
    • , Marcel Martin
    • , Johan Viklund
    • , Andreas Kusalananda Kähäri
    • , Pär Lundin
    • , Huiwen Che
    • , Jessada Thutkawkorapin
    • , Jesper Eisfeldt
    • , Samuel Lampa
    • , Mats Dahlberg
    • , Jonas Hagberg
    • , Niclas Jareborg
    • , Ulrika Liljedahl
    • , Inger Jonasson
    • , Åsa Johansson
    • , Lars Feuk
    • , Joakim Lundeberg
    • , Ann-Christine Syvänen
    • , Sverker Lundin
    • , Daniel Nilsson
    • , Björn Nystedt
    • , Patrik KE Magnusson
    •  & Ulf Gyllensten
  • Research | | open

    A report of high-depth, short-read sequencing and de novo assemblies for 150 individuals from 50 parent–offspring trios as part of establishing a population reference genome for the GenomeDenmark project.

    • Lasse Maretty
    • , Jacob Malte Jensen
    • , Bent Petersen
    • , Jonas Andreas Sibbesen
    • , Siyang Liu
    • , Palle Villesen
    • , Laurits Skov
    • , Kirstine Belling
    • , Christian Theil Have
    • , Jose M. G. Izarzugaza
    • , Marie Grosjean
    • , Jette Bork-Jensen
    • , Jakob Grove
    • , Thomas D. Als
    • , Shujia Huang
    • , Yuqi Chang
    • , Ruiqi Xu
    • , Weijian Ye
    • , Junhua Rao
    • , Xiaosen Guo
    • , Jihua Sun
    • , Hongzhi Cao
    • , Chen Ye
    • , Johan van Beusekom
    • , Thomas Espeseth
    • , Esben Flindt
    • , Rune M. Friborg
    • , Anders E. Halager
    • , Stephanie Le Hellard
    • , Christina M. Hultman
    • , Francesco Lescai
    • , Shengting Li
    • , Ole Lund
    • , Peter Løngren
    • , Thomas Mailund
    • , Maria Luisa Matey-Hernandez
    • , Ole Mors
    • , Christian N. S. Pedersen
    • , Thomas Sicheritz-Pontén
    • , Patrick Sullivan
    • , Ali Syed
    • , David Westergaard
    • , Rachita Yadav
    • , Ning Li
    • , Xun Xu
    • , Torben Hansen
    • , Anders Krogh
    • , Lars Bolund
    • , Thorkild I. A. Sørensen
    • , Oluf Pedersen
    • , Ramneek Gupta
    • , Simon Rasmussen
    • , Søren Besenbacher
    • , Anders D. Børglum
    • , Jun Wang
    • , Hans Eiberg
    • , Karsten Kristiansen
    • , Søren Brunak
    •  & Mikkel Heide Schierup
    Nature 548, 87–91

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