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The spectrum of genetic variations ranges from single nucleotide polymorphisms (SNPs) to large-scale structural variants (SVs). Genome SVs involving kilobase- to megabase-sized insertions, deletions, duplications, and inversions, as well as… Click to show full abstract
The spectrum of genetic variations ranges from single nucleotide polymorphisms (SNPs) to large-scale structural variants (SVs). Genome SVs involving kilobase- to megabase-sized insertions, deletions, duplications, and inversions, as well as complex combinations of rearrangements, are common during evolution in various species (Feuk et al., 2006; Saxena et al., 2014). A larger fraction of the human genome is affected by SVs than SNPs, indicating that SVs may have more significant impacts or consequences for phenotypic variation (e.g., various chronic diseases) and evolution than SNPs.
Journal Title: Molecular plant
Year Published: 2017
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