Abstract

Structural variation (SV) is a type of genetic variation identified through the comparison of genome structures which often have direct and significant associations with phenotypic variations. Building on the next generation sequencing (NGS) technologies, research on plant structural variations are gaining momentum and have revolutionized our view on the functional impact of the 'hidden' diversity that were largely understudied before. Herein, we first describe the current state of plant genomic SV research based on NGS and in particular focus on the biological insights gained from the large-scale identification of various types of plant SVs. Specific examples are chosen to demonstrate the genetic basis for phenotype diversity in model plant and major agricultural crops. Additionally, development of new genomic mapping technologies, including optical mapping and long read sequencing, as well as improved computational algorithms associated with these technologies have helped to pinpoint the exact nature and location of genomic SVs with much better resolution and precision. Future direction of plant research on SVs should focus on the population level to build a comprehensive catalog of SVs, leading to full assessment of their impact on biological diversity.

Highlights

  • Structural variations (SVs) are a collection of complex genomic DNA mutations that differentiate among individuals in a certain population

  • The initial detection of SVs before the advent of the sequencing era is often based on detection of large scale chromosomal changes from karyotypic observation under microscope, including abnormal number of chromosomes such as aneuploidies ( Jacobs et al, 1959; Edwards et al, 1960), chromosomal rearrangement (Bobrow et al, 1971) and copy number variations (CNVs) (Bailey and Eichler 2006)

  • Building on the next-generation sequencing (NGS) technology, we are moving towards a new phase of variant discovery that focus on identification of SVs with their boundaries mapped at single-base resolution

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Summary

Introduction

Structural variations (SVs) are a collection of complex genomic DNA mutations that differentiate among individuals in a certain population.

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