Large genomic differences and human variation

Dienekes Pontikos:

The published sequence of the human genome is essentially a really long sequence of letters. Individual genomes differ from this sequence, and from each other, because they substitute one letter for another. However, these polymorphisms are quite rare, and hence humans are usually said to be genetically 99.9% the same.

However, two genomes may differ in other ways as well. Entire segments of DNA may be duplicated in some, or missing in others, or they could exist, but written "backwards".

Until recently, it was generally assumed that differences between individuals and populations were due to the really small changes in our genes. But, as reported in Nature, scientists are discovering that the large differences in which big chunks of DNA are duplicated, missing, or inverted, may be even more important for explaining human variation.

Large genomic differences explain our little quirks

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