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That Pesky Last Bit

When the human genome was declared finished in 2003, it was actually 99 percent done, writes Harold "Skip" Garner from the Edward Via College of Osteopathic Medicine in a Scientific American blog post. He argues that now's the time to fully complete the job.

That unfinished 1 percent hasn't been done because it's tricky — most of it is housed within repetitive sequences and are near telomeres or centromeres.

Garner says he and his colleagues have uncovered some genes lurking on those repetitive regions, and if 1 percent of the estimated 20,000 to 25,000 human genes are also missing, then these unexplored regions could house some 200 genes. Further, he notes that if genes aren't included in the reference genome, they would likely go unstudied.

Telomeres contain a number of repeats that are lost as cells age, many of which haven't been sequenced. And while some of these repeats might just be a buffer, others could be genes involved in aging or linked to aging-associated diseases.

"What if one of the undiscovered genes, is really important, but nobody is looking at it? The sooner we truly finish the human genome, the sooner we will be truly able to exploit it, for understanding and health," Garner writes.

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