TalkHuman Genomes More Unique Than We Thought; or, Craig Venter Strikes Again
There is an old saying, “the more you know, the more you know you don’t know.” That’s why now is such an exciting time in the science of genetics and genomics. This week we heard all about how the genome has been sequenced, again.
For the average gal on the street, you may be wondering “Why do I keep reading about how the human genome has been sequenced, again and again? Wasn’t that done years ago? And then wasn’t it done again, with James Watson, one of they guys who discovered DNA?” The details, as with credit card accounts, are in the fine print.
When thinking about DNA and genomes, particularly the human genome, there are all sorts of complicated, creative, beautiful and happenstance things that can happen to DNA that create our own, personal and unique genomes.
But there are other kinds of variation, all of which can have consequences for a person. One type is called indels, where a single DNA unit has either been inserted or deleted from the genome. Another is copy number variation, in which the same gene can exist in multiple copies. There are also inversions, in which a stretch of DNA has been knocked out of its chromosome and reinserted the wrong way around. Dr. Venter’s genome has four million variations compared with the consortium’s, including three million snips, nearly a million indels and 90 inversions.
“This is the first time that anyone has had an accurate representation of how much variation there is in a human genome,” said Stephen W. Scherer of the University of Toronto, a co-author of the study. (Nicholas Wade, NYTimes)
Read more:
- Blaine, the Genetic Genealogist, has interesting comments about what this new diploid genome means for us plus a comprehensive list of other bloggers’ posts on this news.
- Washington Post: Mom’s Genes or Dad’s?
- NY Times: In Genome Race, The Sequel Is Personal
