Structural Variations in the Genome

by Dr. Hsien-Hsien Lei
Posted May 11, 2007 in DNA in General

When the Human Genome Project was “completed” in 2003, researchers didn’t shut down their laptops and go for a vacation in Tahiti. Dr. Evan E. Eichler, a Howard Hughes Medical Institute Investigator, moved on to the next project - a study of DNA from 62 people who participated in the International HapMap Project. His team has found newly discovered DNA sequences that were not included in the reference sequence of the human genome.

Instead of identifying single base pair differences in DNA (such as single nucleotide polymorphisms or SNPs), Dr. Eichler is interested in studying bigger changes that lead to structural variations. These types of genetic differences include insertions, duplications, deletions, and inversions of DNA that may account for up to 5-10% of the human genome. Studies examining the association between structural variations and disease may reveal new targets for screening or treatment.

Dr. Eichler:

It’s a lot of work, because it’s essentially doing 62 additional human genome projects. Having been involved in the first one, I swore I would never do it again. But in this case we’re looking at the coolest parts of the genome.

Maybe he could still use that trip to Tahiti!

NB: More about structural variations within the human genome in a Nature Genetics News and Views article by Dr. Eichler.

Tags: genome, genomics, evan eichler, hhmi, genetics, genes, dna, diseases, illness, health

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