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Genetic Variation: We're More Different than We Thought

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To fully extract meaningful data using the human genome maps, researchers must know what's missing and how much variation exists, Scherer said. "Our computer algorithms are smart, but it is hard to find something if it is not there in the reference you are comparing against."

In fact, Scherer's group found some 30 million nucleotides that are seemingly not yet represented at all, or in different copy numbers or orientations, when comparing the Celera assembly to the public human genome sequence. The entire human genome is thought to contain about 3 billion nucleotides.

The discovery of an abundance of DNA variation puts a whole new spin on the study of genetic disease. Most research has focused on small alterations, called single nucleotide polymorphisms (SNPs). It may be, said Scherer, that some diseases are caused by copy number variations rather than SNPs. In fact, recent research has already linked such variations to kidney disease, Parkinson's disease, Alzheimer's disease, and AIDS susceptibility.

The discovery also provides a new outlook on evolution.

"Until now, our focus has been on examining evolution through either small SNP changes or larger chromosomal alterations you can see under the microscope, because that's what we could detect," Scherer said. "But now there's a whole new class of mid-sized variants encompassing millions of nucleotides of DNA to consider."

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