Humans are different because of big DNA differences, not little ones

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.

It seems that structural variations are more specific to individuals than single nucleotide polymorphisms are. Learn more here.

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