Structural variation

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

    Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

    • Mark J. P. Chaisson
    • , Ashley D. Sanders
    • , Xuefang Zhao
    • , Ankit Malhotra
    • , David Porubsky
    • , Tobias Rausch
    • , Eugene J. Gardner
    • , Oscar L. Rodriguez
    • , Li Guo
    • , Ryan L. Collins
    • , Xian Fan
    • , Jia Wen
    • , Robert E. Handsaker
    • , Susan Fairley
    • , Zev N. Kronenberg
    • , Xiangmeng Kong
    • , Fereydoun Hormozdiari
    • , Dillon Lee
    • , Aaron M. Wenger
    • , Alex R. Hastie
    • , Danny Antaki
    • , Thomas Anantharaman
    • , Peter A. Audano
    • , Harrison Brand
    • , Stuart Cantsilieris
    • , Han Cao
    • , Eliza Cerveira
    • , Chong Chen
    • , Xintong Chen
    • , Chen-Shan Chin
    • , Zechen Chong
    • , Nelson T. Chuang
    • , Christine C. Lambert
    • , Deanna M. Church
    • , Laura Clarke
    • , Andrew Farrell
    • , Joey Flores
    • , Timur Galeev
    • , David U. Gorkin
    • , Madhusudan Gujral
    • , Victor Guryev
    • , William Haynes Heaton
    • , Jonas Korlach
    • , Sushant Kumar
    • , Jee Young Kwon
    • , Ernest T. Lam
    • , Jong Eun Lee
    • , Joyce Lee
    • , Wan-Ping Lee
    • , Sau Peng Lee
    • , Shantao Li
    • , Patrick Marks
    • , Karine Viaud-Martinez
    • , Sascha Meiers
    • , Katherine M. Munson
    • , Fabio C. P. Navarro
    • , Bradley J. Nelson
    • , Conor Nodzak
    • , Amina Noor
    • , Sofia Kyriazopoulou-Panagiotopoulou
    • , Andy W. C. Pang
    • , Yunjiang Qiu
    • , Gabriel Rosanio
    • , Mallory Ryan
    • , Adrian Stütz
    • , Diana C. J. Spierings
    • , Alistair Ward
    • , AnneMarie E. Welch
    • , Ming Xiao
    • , Wei Xu
    • , Chengsheng Zhang
    • , Qihui Zhu
    • , Xiangqun Zheng-Bradley
    • , Ernesto Lowy
    • , Sergei Yakneen
    • , Steven McCarroll
    • , Goo Jun
    • , Li Ding
    • , Chong Lek Koh
    • , Bing Ren
    • , Paul Flicek
    • , Ken Chen
    • , Mark B. Gerstein
    • , Pui-Yan Kwok
    • , Peter M. Lansdorp
    • , Gabor T. Marth
    • , Jonathan Sebat
    • , Xinghua Shi
    • , Ali Bashir
    • , Kai Ye
    • , Scott E. Devine
    • , Michael E. Talkowski
    • , Ryan E. Mills
    • , Tobias Marschall
    • , Jan O. Korbel
    • , Evan E. Eichler
    •  & Charles Lee
  • Research | | open

    Large structural variants (SV) are understudied in human genetics research because of the difficulty to detect them in the routinely generated short-read sequencing data. Here, the authors generate optical genome maps of 154 individuals from 26 populations that allow comprehensive examination of large SVs.

    • Michal Levy-Sakin
    • , Steven Pastor
    • , Yulia Mostovoy
    • , Le Li
    • , Alden K. Y. Leung
    • , Jennifer McCaffrey
    • , Eleanor Young
    • , Ernest T. Lam
    • , Alex R. Hastie
    • , Karen H. Y. Wong
    • , Claire Y. L. Chung
    • , Walfred Ma
    • , Justin Sibert
    • , Ramakrishnan Rajagopalan
    • , Nana Jin
    • , Eugene Y. C. Chow
    • , Catherine Chu
    • , Annie Poon
    • , Chin Lin
    • , Ahmed Naguib
    • , Wei-Ping Wang
    • , Han Cao
    • , Ting-Fung Chan
    • , Kevin Y. Yip
    • , Ming Xiao
    •  & Pui-Yan Kwok

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