single nucleotide polymorphism

Your Genome Structure, Not Genetic Mutations, Makes You Different (from wired.com)

From Wired.com

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A new look at the human genome suggests that unappreciated variations in its fundamental architecture, rather than point-by-point mutations, may be responsible for most genetic difference among people.

Point-by-point mutations, called single nucleotide polymorphisms, involve simple changes to DNA lettering. They’re the best-studied type of variation, the target of most genomic disease hunts, and the substance of commercially available personal genome readouts.

More complex yet less-studied are structural variations, which involve large-scale changes: wholesale duplications and reversals, or unexpected additions and omissions, of long DNA sequences.

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